EVS definitions and mappings_caDSRxls - NIH.xls

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The workbook contains the controlled vocabulary in the Common Biorepository Model, their definitions, NCI codes, and mappings to other
standards and codes.



MappingsToOtherStds worksheet: The MappingsToOtherStds worksheet represents the effort by the National Cancer Institute's Enterprise Vocabulary
Services (EVS) to map the terms proposed for the Common Biorepository Model, and subsequently added to the NCI Thesaurus, in the NCI
metaThesaurus which cross-references the terms with other coding standards commonly used by the scientific community. The three coding standards
which were predominantly used in this effort are SNOMEDCT, ICD9CM, and ICD10. The purpose of mapping the terms in CBM to standards other than
the NCI Thesaurus was to enable implementers of the CBM to match the terms to coding standards that are widely accepted by researchers. The
following list describes what each column of the worksheet represents:
Column A (Row #): Refers to the corresponding row number (primary key) in all of the worksheets.
Column B (NCI Code): The code assigned to the term in the NCI Thesaurus.
Column C (NCI Preferred Name): This is the NCI preferred name as found in the NCI Thesaurus and corresponding to the NCI Code.
Column D (Source): The name of the source (coding standard) from which the term to be used in the CBM are being mapped to in NCI MetaThesaurus
Column E (Source Code): The code for the term taken from the source in column D.
Column F (Source concept name): The name of the term as it appears in the source (coding standard) from column E.
For a comprehensive list of all the references please refer to the NCI Thesaurus http://ncit.nci.nih.gov/ and do a search by the NCI Code.


Anatomic Source, Diagnosis Type, Preservation Types, and Specimen Type worksheets: These worksheets contain the controlled vocabulary for
these elements in the Common Biorepository Model.
Column A (Row #): Refers to the corresponding row number (primary key) in all of the worksheets.
Column B (Tab or SRL name): Tab is a reference to the worksheet; in the Diagnosis Type worksheet only SRL Name is a reference to stakeholders who
provided these list of diagnosis.
Column C (NCI Code): The code assigned to the term in the NCI Thesaurus.
Column D (NCI Preferred Name): This is the NCI preferred name as found in the NCI Thesaurus and corresponding to the NCI Code.
Column E (NCI Definition): This is the definition as found in the NCI Thesaurus.
anatomicSource is located in the SpecimenCollectionSummary class in the Common Biorepository Model
diagnosisType is located in the Diagnosis class in the Common Biorepository Model
preservationType is located in the Preservation class in the Common Biorepository Model
specimenType is located in the SpecimenCollectionSummary class in the Common Biorepository Model
For a comprehensive list of all the references please refer to the NCI Thesaurus http://ncit.nci.nih.gov/ and do a search by the NCI Code.




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Race, Ethnicity, and Gender worksheets: These worksheets contain the controlled vocabulary for these elements in the Common Biorepository Model.
Column A (Row #): Refers to the corresponding row number (primary key) in all of the worksheets.
Column B (Tab or SRL name): Tab is a reference to the worksheet; in the Diagnosis Type worksheet only SRL Name is a reference to stakeholders who
provided these list of diagnosis.
Column C (NCI Code): The code assigned to the term in the NCI Thesaurus.
Column D (NCI Preferred Name): This is the NCI preferred name as found in the NCI Thesaurus and corresponding to the NCI Code.
Column E (NCI Synonyms): This column contains the NCI Synonyms associated with this NCI Code and NCI Preferred Name in the NCI Thesaurus.
Column F (NCI Definition): This is the definition as found in the NCI Thesaurus.
race is located in the Race class in the Common Biorepository Model
ethnicity is located in the ParticipantCollectionSummary class in the Common Biorepository Model
gender is located in the ParticipantCollectionSummary class in the Common Biorepository Model
For a comprehensive list of all the references please refer to the NCI Thesaurus http://ncit.nci.nih.gov/ and do a search by the NCI Code.


Patient Age Group at Collection worksheet: This worksheet contains the ennumeration values for this data element.
Column A (Tab): Tab is a reference to the worksheet.
Column B (x):
Column C (x):



NCI_Synonymns worksheet: The NCI_Synonymns worksheet is a collection of some but not all of the possible synonyms for a CBM term that can be
found within the NCI Thesauraus and NCI Metathesaurus.
Column A (NCI Code): The code assigned to the term in the NCI Thesaurus. This is the standard that we would like to proceed with.
Column B (NCI Preferred Name): This is the NCI preferred name as found in the NCI Thesaurus and corresponding to the NCI Code.
Column C (NCI Synonym): This is a synonym for the NCI name term as found in NCI Thesaurus.
For a comprehensive list of all the references please refer to the NCI Thesaurus http://ncit.nci.nih.gov/ and do a search by the NCI Code.




                                                       17648f20-afe3-4eb8-8e8d-47d061c7b345.xls
Row #    NCI Code   NCI Preferred Name     Source
     2   C12472     Adipose Tissue         SNOMEDCT
     2   C12472     Adipose Tissue         SNOMEDCT
     3   C12666     Adrenal Gland          SNOMEDCT
     4   C13188     Amniotic Fluid         SNOMEDCT
     5   C43362     Anus                   SNOMEDCT
     5   C43362     Anus                   SNOMEDCT
     6   C12669     Aorta                  SNOMEDCT
     6   C12669     Aorta                  SNOMEDCT
     7   C32141     Arm                    SNOMEDCT
     8   C12372     Artery                 SNOMEDCT
     9   C12447     Basal Ganglia          SNOMEDCT
   10    C12376     Bile Duct              SNOMEDCT
   11    C12678     Biliary Tract          SNOMEDCT
   12    C12414     Bladder                SNOMEDCT
   13    C12434     Blood                  SNOMEDCT
   14    C12679     Blood Vessel           SNOMEDCT
   15    C12366     Bone                   SNOMEDCT
   16    C12431     Bone Marrow            SNOMEDCT
   16    C12431     Bone Marrow            SNOMEDCT
   17    C12439     Brain                  SNOMEDCT
   18    C12441     Brain Stem             SNOMEDCT
   19    C12971     Breast                 SNOMEDCT
   20    C12683     Bronchus               SNOMEDCT
   21    C12685     Capillary
   22    C12373     Cartilage              SNOMEDCT
   22    C12373     Cartilage              SNOMEDCT
   23    C12445     Cerebellum             SNOMEDCT
   24    C12692     Cerebrospinal Fluid    SNOMEDCT
   25    C12311     Cervix Uteri           SNOMEDCT
   26    C12382     Colon                  SNOMEDCT
   26    C12382     Colon                  SNOMEDCT
   27    C12700     Cranial Nerve          SNOMEDCT
   28    C12702     Diaphragm              SNOMEDCT
   28    C12702     Diaphragm              SNOMEDCT
   29    C12462     Dorsal Root Ganglion   SNOMEDCT
   30    C12394     Ear                    SNOMEDCT
   31    C13004     Endocardium            SNOMEDCT
   31    C13004     Endocardium            SNOMEDCT
   32    C12865     Endothelial Cell       SNOMEDCT
   33    C12328     Epididymis             SNOMEDCT
   34    C12389     Esophagus              SNOMEDCT
   35    C12401     Eye                    SNOMEDCT
   35    C12401     Eye                    SNOMEDCT
   36    C12403     Fallopian Tube         SNOMEDCT
   36    C12403     Fallopian Tube         SNOMEDCT
   37    C13108     Fascia                 SNOMEDCT
37   C13108   Fascia            SNOMEDCT
38   C54187   Floor of Mouth    SNOMEDCT
38   C54187   Floor of Mouth    SNOMEDCT
39   C32622   Foot              SNOMEDCT
40   C12377   Gallbladder       SNOMEDCT
41   C12725   Gonad             SNOMEDCT
42   C32705   Hair              SNOMEDCT
42   C32705   Hair              SNOMEDCT
43   C12727   Heart             SNOMEDCT
44   C12246   Hypopharynx       SNOMEDCT
45   C32885   Islet Cell
46   C13044   Joint             SNOMEDCT
47   C84388   Joint Capsule     SNOMEDCT
48   C12415   Kidney            SNOMEDCT
49   C32898   Knee Joint        SNOMEDCT
50   C12346   Lacrimal Gland    SNOMEDCT
51   C12379   Large Intestine   SNOMEDCT
52   C12420   Larynx            SNOMEDCT
52   C12420   Larynx            SNOMEDCT
53   C32974   Leg               SNOMEDCT
54   C12529   Leukocyte         SNOMEDCT
55   C13046   Ligament          SNOMEDCT
56   C12220   Lip               SNOMEDCT
56   C12220   Lip               SNOMEDCT
57   C12392   Liver             SNOMEDCT
58   C12468   Lung              SNOMEDCT
58   C12468   Lung              SNOMEDCT
59   C12745   Lymph Node        SNOMEDCT
60   C12535   Lymphocyte        SNOMEDCT
60   C12535   Lymphocyte        SNOMEDCT
61   C33049   Male Prepuce      SNOMEDCT
62   C12748   Mediastinum       SNOMEDCT
62   C12748   Mediastinum       SNOMEDCT
63   C33096   Meniscus          SNOMEDCT
64   C33103   Mesentery         SNOMEDCT
64   C33103   Mesentery         SNOMEDCT
65   C13056   Muscle            SNOMEDCT
65   C13056   Muscle            SNOMEDCT
65   C13056   Muscle            SNOMEDCT
66   C12371   Myocardium        SNOMEDCT
66   C12371   Myocardium        SNOMEDCT
67   C12314   Myometrium        SNOMEDCT
68   C33156   Nail              SNOMEDCT
68   C33156   Nail              SNOMEDCT
69   C12423   Nasopharynx       SNOMEDCT
69   C12423   Nasopharynx       SNOMEDCT
70   C13063   Neck              SNOMEDCT
 71   C12466   Nerve                               SNOMEDCT
 72   C12533   Neutrophil                          SNOMEDCT
 73   C12756   Nose                                SNOMEDCT
 73   C12756   Nose                                SNOMEDCT
 74   C33209   Omentum                             SNOMEDCT
 74   C33209   Omentum                             SNOMEDCT
 75   C12421   Oral Cavity                         SNOMEDCT
 76   C12762   Oropharynx                          SNOMEDCT
 76   C12762   Oropharynx                          SNOMEDCT
 77   C12404   Ovary                               SNOMEDCT
 78   C12393   Pancreas                            SNOMEDCT
 79   C12763   Paranasal Sinus                     SNOMEDCT
 79   C12763   Paranasal Sinus                     SNOMEDCT
 80   C12765   Parathyroid Gland                   SNOMEDCT
 80   C12765   Parathyroid Gland                   SNOMEDCT
 81   C12409   Penis                               SNOMEDCT
 82   C13005   Pericardium                         SNOMEDCT
 82   C13005   Pericardium                         SNOMEDCT
 83   C12954   Peripheral Blood Mononuclear Cell   SNOMEDCT
 84   C12768   Peripheral Nerve                    SNOMEDCT
 85   C12770   Peritoneum                          SNOMEDCT
 86   C33318   Pharyngeal Tonsil                   SNOMEDCT
 87   C12425   Pharynx                             SNOMEDCT
 88   C12398   Pineal Gland                        SNOMEDCT
 89   C12399   Pituitary Gland                     SNOMEDCT
 90   C13272   Placenta                            SNOMEDCT
 90   C13272   Placenta                            SNOMEDCT
 91   C13356   Plasma                              SNOMEDCT
 91   C13356   Plasma                              SNOMEDCT
 92   C12520   Platelet                            SNOMEDCT
 93   C12410   Prostate Gland                      SNOMEDCT
 94   C12390   Rectum                              SNOMEDCT
 95   C12426   Salivary Gland                      SNOMEDCT
 95   C12426   Salivary Gland                      SNOMEDCT
 96   C12787   Seminal Vesicle                     SNOMEDCT
 97   C12470   Skin                                SNOMEDCT
 98   C12386   Small Intestine                     SNOMEDCT
 98   C12386   Small Intestine                     SNOMEDCT
 99   C12464   Spinal Cord                         SNOMEDCT
100   C12432   Spleen                              SNOMEDCT
101   C12391   Stomach                             SNOMEDCT
102   C33718   Synovial Fluid                      SNOMEDCT
102   C33718   Synovial Fluid                      SNOMEDCT
104   C12473   Synovial Membrane                   SNOMEDCT
104   C13045   Tendon                              SNOMEDCT
105   C12412   Testis                              SNOMEDCT
105   C12412   Testis                              SNOMEDCT
106   C12433   Thymus Gland                   SNOMEDCT
107   C12400   Thyroid Gland                  SNOMEDCT
108   C12422   Tongue                         SNOMEDCT
109   C12802   Tonsil
110   C12506   Tooth                          SNOMEDCT
110   C12506   Tooth                          SNOMEDCT
111   C12428   Trachea                        SNOMEDCT
111   C12428   Trachea                        SNOMEDCT
112   C34320   Umbilical Cord                 SNOMEDCT
113   C13300   Umbilical Cord Blood           SNOMEDCT
114   C12416   Ureter                         SNOMEDCT
114   C12416   Ureter                         SNOMEDCT
115   C12417   Urethra                        SNOMEDCT
115   C12417   Urethra                        SNOMEDCT
116   C12405   Uterus                         SNOMEDCT
117   C12407   Vagina                         SNOMEDCT
118   C12813   Vas Deferens                   SNOMEDCT
119   C12814   Vein                           SNOMEDCT
120   C12380   Appendix                       SNOMEDCT
121   C12933   Vertebra                       SNOMEDCT
121   C12933   Vertebra                       SNOMEDCT
122   C12998   Vertebral Column               SNOMEDCT
122   C12998   Vertebral Column               SNOMEDCT
123   C12408   Vulva                          SNOMEDCT
125   C3167    Acute Lymphoblastic Leukemia   ICD10
125   C3167    Acute Lymphoblastic Leukemia   ICD9CM
125   C3167    Acute Lymphoblastic Leukemia   SNOMEDCT
125   C3167    Acute Lymphoblastic Leukemia   SNOMEDCT
125   C3167    Acute Lymphoblastic Leukemia   SNOMEDCT
126   C3171    Acute Myeloid Leukemia         ICD10
126   C3171    Acute Myeloid Leukemia         ICD9CM
126   C3171    Acute Myeloid Leukemia         SNOMEDCT
126   C3171    Acute Myeloid Leukemia         SNOMEDCT
126   C3171    Acute Myeloid Leukemia         SNOMEDCT
127   C2852    Adenocarcinoma                 SNOMEDCT
127   C2852    Adenocarcinoma                 SNOMEDCT
128   C9330    Appendix Carcinoma
129   C2921    Skin Basal Cell Carcinoma      SNOMEDCT
129   C2921    Skin Basal Cell Carcinoma      SNOMEDCT
129   C2921    Skin Basal Cell Carcinoma      SNOMEDCT
129   C2921    Skin Basal Cell Carcinoma      SNOMEDCT
129   C2921    Skin Basal Cell Carcinoma      SNOMEDCT
130   C4912    Bladder Carcinoma              SNOMEDCT
131   C4872    Breast Carcinoma               SNOMEDCT
131   C4872    Breast Carcinoma               SNOMEDCT
132   C35875   Bronchogenic Carcinoma         SNOMEDCT
132   C35875   Bronchogenic Carcinoma         SNOMEDCT
133   C2916    Carcinoma                                         SNOMEDCT
133   C2916    Carcinoma                                         SNOMEDCT
134   C2917    Carcinoma In Situ                                 ICD10
134   C2917    Carcinoma In Situ                                 ICD9CM
134   C2917    Carcinoma In Situ                                 ICD9CM
134   C2917    Carcinoma In Situ                                 SNOMEDCT
134   C2917    Carcinoma In Situ                                 SNOMEDCT
134   C2917    Carcinoma In Situ                                 SNOMEDCT
135   C9039    Cervical Carcinoma                                SNOMEDCT
135   C9039    Cervical Carcinoma                                SNOMEDCT
135   C9039    Cervical Carcinoma                                SNOMEDCT
136   C3168    Childhood Acute Lymphoblastic Leukemia
137   C6207    Childhood Brain Germinoma
138   C7703    Childhood Brain Neoplasm
139   C7705    Childhood Rhabdomyosarcoma
140   C4436    Cholangiocarcinoma                                SNOMEDCT
140   C4436    Cholangiocarcinoma                                SNOMEDCT
141   C3163    Chronic Lymphocytic Leukemia                      ICD10
141   C3163    Chronic Lymphocytic Leukemia                      ICD9CM
141   C3163    Chronic Lymphocytic Leukemia                      SNOMEDCT
141   C3163    Chronic Lymphocytic Leukemia                      SNOMEDCT
141   C3163    Chronic Lymphocytic Leukemia                      SNOMEDCT
142   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive   ICD10
142   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive   ICD9CM
142   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive   SNOMEDCT
142   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive   SNOMEDCT
142   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive   SNOMEDCT
143   C4264    Clear Cell Sarcoma of the Kidney                  SNOMEDCT
143   C4264    Clear Cell Sarcoma of the Kidney                  SNOMEDCT
144   C2955    Colorectal Carcinoma
145   C2960    Condyloma Acuminatum                              ICD10
145   C2960    Condyloma Acuminatum                              ICD9CM
145   C2960    Condyloma Acuminatum                              SNOMEDCT
145   C2960    Condyloma Acuminatum                              SNOMEDCT
146   C3513    Esophageal Carcinoma                              SNOMEDCT
147   C4817    Ewing Sarcoma                                     SNOMEDCT
148   C3867    Fallopian Tube Carcinoma                          SNOMEDCT
149   C3844    Gallbladder Carcinoma                             SNOMEDCT
150   C4911    Gastric Carcinoma                                 SNOMEDCT
151   C3058    Glioblastoma                                      SNOMEDCT
151   C3058    Glioblastoma                                      SNOMEDCT
152   C35850   Head and Neck Carcinoma
153   C3728    Hepatoblastoma                                    ICD10
153   C3728    Hepatoblastoma                                    SNOMEDCT
153   C3728    Hepatoblastoma                                    SNOMEDCT
154   C3099    Hepatocellular Carcinoma                          ICD10
154   C3099    Hepatocellular Carcinoma                          SNOMEDCT
154   C3099    Hepatocellular Carcinoma                                 SNOMEDCT
154   C3099    Hepatocellular Carcinoma                                 SNOMEDCT
155   C40197   High Grade Cervical Squamous Intraepithelial Neoplasia
156   C9357    Hodgkin Lymphoma                                         ICD10
156   C9357    Hodgkin Lymphoma                                         ICD10
156   C9357    Hodgkin Lymphoma                                         ICD9CM
156   C9357    Hodgkin Lymphoma                                         ICD9CM
156   C9357    Hodgkin Lymphoma                                         ICD9CM
156   C9357    Hodgkin Lymphoma                                         ICD9CM
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
156   C9357    Hodgkin Lymphoma                                         SNOMEDCT
157   C9087    Kaposi Sarcoma                                           ICD10
157   C9087    Kaposi Sarcoma                                           ICD10
157   C9087    Kaposi Sarcoma                                           ICD9CM
157   C9087    Kaposi Sarcoma                                           ICD9CM
157   C9087    Kaposi Sarcoma                                           SNOMEDCT
157   C9087    Kaposi Sarcoma                                           SNOMEDCT
157   C9087    Kaposi Sarcoma                                           SNOMEDCT
158   C3157    Leiomyoma                                                SNOMEDCT
158   C3157    Leiomyoma                                                SNOMEDCT
158   C3157    Leiomyoma                                                SNOMEDCT
159   C3161    Leukemia                                                 ICD10
159   C3161    Leukemia                                                 ICD10
159   C3161    Leukemia                                                 ICD9CM
159   C3161    Leukemia                                                 ICD9CM
159   C3161    Leukemia                                                 SNOMEDCT
159   C3161    Leukemia                                                 SNOMEDCT
159   C3161    Leukemia                                                 SNOMEDCT
159   C3161    Leukemia                                                 SNOMEDCT
159   C3161    Leukemia                                                 SNOMEDCT
159   C3161    Leukemia                                                 SNOMEDCT
159   C3161    Leukemia                                                 SNOMEDCT
160   C3194    Liposarcoma                                              SNOMEDCT
160   C3194    Liposarcoma                                              SNOMEDCT
160   C3194   Liposarcoma                                      SNOMEDCT
161   C7927   Liver and Intrahepatic Biliary Tract Carcinoma
162   C4018   Lobular Breast Carcinoma In Situ                 SNOMEDCT
163   C4878   Lung Carcinoma
164   C3208   Lymphoma                                         SNOMEDCT
164   C3208   Lymphoma                                         SNOMEDCT
164   C3208   Lymphoma                                         SNOMEDCT
164   C3208   Lymphoma                                         SNOMEDCT
164   C3208   Lymphoma                                         SNOMEDCT
165   C4016   Malignant Bone Neoplasm                          SNOMEDCT
165   C4016   Malignant Bone Neoplasm                          SNOMEDCT
166   C3568   Malignant Brain Neoplasm                         ICD10
166   C3568   Malignant Brain Neoplasm                         ICD10
166   C3568   Malignant Brain Neoplasm                         ICD9CM
166   C3568   Malignant Brain Neoplasm                         ICD9CM
166   C3568   Malignant Brain Neoplasm                         SNOMEDCT
166   C3568   Malignant Brain Neoplasm                         SNOMEDCT
167   C4767   Malignant Eye Neoplasm                           ICD10
167   C4767   Malignant Eye Neoplasm                           ICD9CM
167   C4767   Malignant Eye Neoplasm                           ICD9CM
167   C4767   Malignant Eye Neoplasm                           SNOMEDCT
167   C4767   Malignant Eye Neoplasm                           SNOMEDCT
168   C7431   Malignant Ovarian Neoplasm                       ICD10
168   C7431   Malignant Ovarian Neoplasm                       ICD9CM
168   C7431   Malignant Ovarian Neoplasm                       SNOMEDCT
169   C3573   Malignant Pineal Region Neoplasm                 ICD10
169   C3573   Malignant Pineal Region Neoplasm                 ICD9CM
169   C3573   Malignant Pineal Region Neoplasm                 SNOMEDCT
170   C2920   Malignant Skin Neoplasm                          ICD10
170   C2920   Malignant Skin Neoplasm                          SNOMEDCT
170   C2920   Malignant Skin Neoplasm                          SNOMEDCT
170   C2920   Malignant Skin Neoplasm                          SNOMEDCT
171   C3539   Malignant Splenic Neoplasm                       ICD10
171   C3539   Malignant Splenic Neoplasm                       SNOMEDCT
171   C3539   Malignant Splenic Neoplasm                       SNOMEDCT
172   C3552   Malignant Uterine Neoplasm                       ICD10
172   C3552   Malignant Uterine Neoplasm                       ICD9CM
172   C3552   Malignant Uterine Neoplasm                       SNOMEDCT
172   C3552   Malignant Uterine Neoplasm                       SNOMEDCT
173   C3224   Melanoma                                         SNOMEDCT
173   C3224   Melanoma                                         SNOMEDCT
173   C3224   Melanoma                                         SNOMEDCT
174   C3234   Mesothelioma                                     ICD10
174   C3234   Mesothelioma                                     ICD10
174   C3234   Mesothelioma                                     SNOMEDCT
174   C3234   Mesothelioma                                     SNOMEDCT
174   C3234   Mesothelioma                                     SNOMEDCT
175   C3996   Monoclonal Gammopathy of Undetermined Significance   SNOMEDCT
175   C3996   Monoclonal Gammopathy of Undetermined Significance   SNOMEDCT
176   C3247   Myelodysplastic Syndrome                             ICD10
176   C3247   Myelodysplastic Syndrome                             ICD10
176   C3247   Myelodysplastic Syndrome                             ICD9CM
176   C3247   Myelodysplastic Syndrome                             SNOMEDCT
176   C3247   Myelodysplastic Syndrome                             SNOMEDCT
176   C3247   Myelodysplastic Syndrome                             SNOMEDCT
176   C3247   Myelodysplastic Syndrome                             SNOMEDCT
177   C3270   Neuroblastoma                                        SNOMEDCT
177   C3270   Neuroblastoma                                        SNOMEDCT
177   C3270   Neuroblastoma                                        SNOMEDCT
178   C3773   Neuroendocrine Carcinoma                             SNOMEDCT
178   C3773   Neuroendocrine Carcinoma                             SNOMEDCT
179   C9231   Merkel Cell Carcinoma                                SNOMEDCT
179   C9231   Merkel Cell Carcinoma                                SNOMEDCT
179   C9231   Merkel Cell Carcinoma                                SNOMEDCT
180   C3059   Neuroglial Tumor                                     SNOMEDCT
180   C3059   Neuroglial Tumor                                     SNOMEDCT
181   C3211   Non-Hodgkin Lymphoma                                 ICD10
181   C3211   Non-Hodgkin Lymphoma                                 ICD10
181   C3211   Non-Hodgkin Lymphoma                                 SNOMEDCT
181   C3211   Non-Hodgkin Lymphoma                                 SNOMEDCT
181   C3211   Non-Hodgkin Lymphoma                                 SNOMEDCT
181   C3211   Non-Hodgkin Lymphoma                                 SNOMEDCT
181   C3211   Non-Hodgkin Lymphoma                                 SNOMEDCT
181   C3211   Non-Hodgkin Lymphoma                                 SNOMEDCT
182   C8989   Oral Neoplasm
183   C9145   Osteosarcoma                                         SNOMEDCT
184   C3850   Pancreatic Carcinoma                                 SNOMEDCT
184   C3850   Pancreatic Carcinoma                                 SNOMEDCT
184   C3850   Pancreatic Carcinoma                                 SNOMEDCT
185   C4906   Parathyroid Gland Carcinoma                          SNOMEDCT
186   C3321   Peripheral Nervous System Neoplasm                   SNOMEDCT
187   C3326   Adrenal Gland Pheochromocytoma                       SNOMEDCT
187   C3326   Adrenal Gland Pheochromocytoma                       SNOMEDCT
188   C3330   Pituitary Gland Neoplasm                             SNOMEDCT
189   C3180   Plasma Cell Leukemia                                 ICD10
189   C3180   Plasma Cell Leukemia                                 ICD9CM
189   C3180   Plasma Cell Leukemia                                 SNOMEDCT
189   C3180   Plasma Cell Leukemia                                 SNOMEDCT
189   C3180   Plasma Cell Leukemia                                 SNOMEDCT
189   C3180   Plasma Cell Leukemia                                 SNOMEDCT
190   C3242   Plasma Cell Myeloma                                  ICD10
190   C3242   Plasma Cell Myeloma                                  ICD9CM
190   C3242   Plasma Cell Myeloma                                  SNOMEDCT
190   C3242   Plasma Cell Myeloma                                  SNOMEDCT
191   C3242    Plasma Cell Myeloma                   ICD10
191   C3242    Plasma Cell Myeloma                   ICD9CM
191   C3242    Plasma Cell Myeloma                   SNOMEDCT
191   C3242    Plasma Cell Myeloma                   SNOMEDCT
192   C9349    Plasmacytoma                          SNOMEDCT
192   C9349    Plasmacytoma                          SNOMEDCT
192   C9349    Plasmacytoma                          SNOMEDCT
192   C9349    Plasmacytoma                          SNOMEDCT
192   C9349    Plasmacytoma                          SNOMEDCT
193   C9360    Lymphoblastic Lymphoma                ICD10
193   C9360    Lymphoblastic Lymphoma                SNOMEDCT
193   C9360    Lymphoblastic Lymphoma                SNOMEDCT
193   C9360    Lymphoblastic Lymphoma                SNOMEDCT
193   C9360    Lymphoblastic Lymphoma                SNOMEDCT
194   C3343    Prostate Neoplasm                     SNOMEDCT
195   C3150    Renal Neoplasm                        SNOMEDCT
196   C8715    Rhabdoid Tumor of the Kidney
197   C9118    Sarcoma                               SNOMEDCT
197   C9118    Sarcoma                               SNOMEDCT
197   C9118    Sarcoma                               SNOMEDCT
197   C9118    Sarcoma                               SNOMEDCT
198   C7724    Small Intestinal Carcinoma
199   C7149    Smoldering Myeloma                    SNOMEDCT
200   C2929    Squamous Cell Carcinoma               SNOMEDCT
200   C2929    Squamous Cell Carcinoma               SNOMEDCT
200   C2929    Squamous Cell Carcinoma               SNOMEDCT
201   C6781    Stromal Neoplasm                      SNOMEDCT
202   C4815    Thyroid Gland Carcinoma               SNOMEDCT
203   C61574   Uterine Corpus Cancer
204   C3917    Vaginal Carcinoma                     SNOMEDCT
205   C4866    Vulvar Carcinoma                      SNOMEDCT
206   C3267    Wilms Tumor
207   C3353    Acute Respiratory Distress Syndrome   ICD10
207   C3353    Acute Respiratory Distress Syndrome   SNOMEDCT
207   C3353    Acute Respiratory Distress Syndrome   SNOMEDCT
208   C84397   Alpha-1 Antitrypsin Deficiency        ICD9CM
208   C84397   Alpha-1 Antitrypsin Deficiency        SNOMEDCT
209   C2869    Anemia                                ICD10
209   C2869    Anemia                                ICD9CM
209   C2869    Anemia                                SNOMEDCT
209   C2869    Anemia                                SNOMEDCT
210   C26693   Aneurysm                              ICD10
210   C26693   Aneurysm                              ICD9CM
210   C26693   Aneurysm                              SNOMEDCT
210   C26693   Aneurysm                              SNOMEDCT
210   C26693   Aneurysm                              SNOMEDCT
211   C61283   Antiphospholipid Syndrome             SNOMEDCT
212   C2870    Aplastic Anemia                  ICD10
212   C2870    Aplastic Anemia                  ICD9CM
212   C2870    Aplastic Anemia                  SNOMEDCT
212   C2870    Aplastic Anemia                  SNOMEDCT
212   C2870    Aplastic Anemia                  SNOMEDCT
213   C2881    Arrhythmia                       ICD10
213   C2881    Arrhythmia                       ICD9CM
213   C2881    Arrhythmia                       ICD9CM
213   C2881    Arrhythmia                       SNOMEDCT
213   C2881    Arrhythmia                       SNOMEDCT
214   C84472   Asbestos-Related Lung Disorder
215   C28397   Asthma                           ICD10
215   C28397   Asthma                           ICD10
215   C28397   Asthma                           ICD9CM
215   C28397   Asthma                           ICD9CM
215   C28397   Asthma                           SNOMEDCT
215   C28397   Asthma                           SNOMEDCT
215   C28397   Asthma                           SNOMEDCT
216   C35768   Atherosclerosis                  ICD10
216   C35768   Atherosclerosis                  ICD9CM
216   C35768   Atherosclerosis                  SNOMEDCT
217   C50466   Atrial Fibrillation              ICD9CM
217   C50466   Atrial Fibrillation              SNOMEDCT
218   C84473   Atrial Septal Defect             ICD10
218   C84473   Atrial Septal Defect             SNOMEDCT
218   C84473   Atrial Septal Defect             SNOMEDCT
218   C84473   Atrial Septal Defect             SNOMEDCT
218   C84473   Atrial Septal Defect             SNOMEDCT
218   C84473   Atrial Septal Defect             SNOMEDCT
219   C84475   Bronchiectasis                   ICD10
219   C84475   Bronchiectasis                   ICD9CM
219   C84475   Bronchiectasis                   SNOMEDCT
219   C84475   Bronchiectasis                   SNOMEDCT
220   C2911    Bronchitis                       ICD10
220   C2911    Bronchitis                       ICD9CM
220   C2911    Bronchitis                       SNOMEDCT
220   C2911    Bronchitis                       SNOMEDCT
220   C2911    Bronchitis                       SNOMEDCT
221   C50479   Cardiac Arrest                   ICD10
221   C50479   Cardiac Arrest                   ICD10
221   C50479   Cardiac Arrest                   ICD9CM
221   C50479   Cardiac Arrest                   SNOMEDCT
221   C50479   Cardiac Arrest                   SNOMEDCT
221   C50479   Cardiac Arrest                   SNOMEDCT
222   C50482   Cardiogenic Shock                ICD10
222   C50482   Cardiogenic Shock                ICD9CM
222   C50482   Cardiogenic Shock                SNOMEDCT
222   C50482   Cardiogenic Shock                        SNOMEDCT
223   C34830   Cardiomyopathy                           ICD10
223   C34830   Cardiomyopathy                           ICD10
223   C34830   Cardiomyopathy                           ICD9CM
223   C34830   Cardiomyopathy                           SNOMEDCT
223   C34830   Cardiomyopathy                           SNOMEDCT
224   C84476   Carotid Artery Disorder                  SNOMEDCT
225   C3199    Chronic Obstructive Pulmonary Disease    ICD10
225   C3199    Chronic Obstructive Pulmonary Disease    SNOMEDCT
225   C3199    Chronic Obstructive Pulmonary Disease    SNOMEDCT
225   C3199    Chronic Obstructive Pulmonary Disease    SNOMEDCT
226   C84477   Congenital Coronary Artery Abnormality
227   C84482   Congenital Septal Defect                 ICD10
227   C84482   Congenital Septal Defect                 ICD10
227   C84482   Congenital Septal Defect                 SNOMEDCT
227   C84482   Congenital Septal Defect                 SNOMEDCT
227   C84482   Congenital Septal Defect                 SNOMEDCT
227   C84482   Congenital Septal Defect                 SNOMEDCT
228   C26732   Coronary Artery Disease                  SNOMEDCT
229   C84478   Coronary Microvascular Disease
230   C37935   Cough                                    ICD10
230   C37935   Cough                                    ICD9CM
230   C37935   Cough                                    SNOMEDCT
230   C37935   Cough                                    SNOMEDCT
230   C37935   Cough                                    SNOMEDCT
230   C37935   Cough                                    SNOMEDCT
230   C37935   Cough                                    SNOMEDCT
231   C2975    Cystic Fibrosis                          ICD10
231   C2975    Cystic Fibrosis                          ICD10
231   C2975    Cystic Fibrosis                          ICD9CM
231   C2975    Cystic Fibrosis                          SNOMEDCT
231   C2975    Cystic Fibrosis                          SNOMEDCT
232   C49343   Deep Vein Thrombosis                     SNOMEDCT
233   C34582   Endocarditis                             SNOMEDCT
234   C84479   Excessive Blood Clotting
235   C62505   Fanconi Anemia                           SNOMEDCT
236   C34665   Heart Block                              SNOMEDCT
236   C34665   Heart Block                              SNOMEDCT
237   C50577   Heart Failure                            ICD10
237   C50577   Heart Failure                            ICD10
237   C50577   Heart Failure                            ICD9CM
237   C50577   Heart Failure                            ICD9CM
237   C50577   Heart Failure                            SNOMEDCT
237   C50577   Heart Failure                            SNOMEDCT
238   C84480   Heart Murmur                             ICD10
238   C84480   Heart Murmur                             SNOMEDCT
238   C84480   Heart Murmur                             SNOMEDCT
238   C84480   Heart Murmur                          SNOMEDCT
238   C84480   Heart Murmur                          SNOMEDCT
238   C84480   Heart Murmur                          SNOMEDCT
239   C84481   Hemochromatosis                       SNOMEDCT
239   C84481   Hemochromatosis                       SNOMEDCT
239   C84481   Hemochromatosis                       SNOMEDCT
240   C34376   Hemolytic Anemia                      ICD10
240   C34376   Hemolytic Anemia                      SNOMEDCT
240   C34376   Hemolytic Anemia                      SNOMEDCT
240   C34376   Hemolytic Anemia                      SNOMEDCT
241   C3093    Hemophilia                            SNOMEDCT
242   C37967   Hypercholesterolemia                  SNOMEDCT
243   C3117    Hypertension                          ICD10
243   C3117    Hypertension                          ICD9CM
243   C3117    Hypertension                          ICD9CM
243   C3117    Hypertension                          SNOMEDCT
243   C3117    Hypertension                          SNOMEDCT
243   C3117    Hypertension                          SNOMEDCT
244   C3128    Hypotension                           ICD10
244   C3128    Hypotension                           ICD10
244   C3128    Hypotension                           ICD9CM
244   C3128    Hypotension                           ICD9CM
244   C3128    Hypotension                           SNOMEDCT
244   C3128    Hypotension                           SNOMEDCT
245   C35716   Idiopathic Pulmonary Fibrosis         ICD9CM
245   C35716   Idiopathic Pulmonary Fibrosis         SNOMEDCT
245   C35716   Idiopathic Pulmonary Fibrosis         SNOMEDCT
245   C35716   Idiopathic Pulmonary Fibrosis         SNOMEDCT
246   C3446    Idiopathic Thrombocytopenic Purpura   ICD10
246   C3446    Idiopathic Thrombocytopenic Purpura   SNOMEDCT
246   C3446    Idiopathic Thrombocytopenic Purpura   SNOMEDCT
247   C28286   Insomnia                              ICD9CM
247   C28286   Insomnia                              SNOMEDCT
247   C28286   Insomnia                              SNOMEDCT
247   C28286   Insomnia                              SNOMEDCT
247   C28286   Insomnia                              SNOMEDCT
247   C28286   Insomnia                              SNOMEDCT
248   C84484   Iron-Deficiency Anemia                ICD10
248   C84484   Iron-Deficiency Anemia                ICD10
248   C84484   Iron-Deficiency Anemia                ICD9CM
248   C84484   Iron-Deficiency Anemia                ICD9CM
248   C84484   Iron-Deficiency Anemia                SNOMEDCT
248   C84484   Iron-Deficiency Anemia                SNOMEDCT
248   C84484   Iron-Deficiency Anemia                SNOMEDCT
249   C34825   Kawasaki Disease                      ICD10
249   C34825   Kawasaki Disease                      ICD9CM
249   C34825   Kawasaki Disease                      SNOMEDCT
249   C34825   Kawasaki Disease               SNOMEDCT
250   C34786   Long QT Syndrome               ICD9CM
250   C34786   Long QT Syndrome               SNOMEDCT
251   C26823   Lymphopenia                    ICD9CM
251   C26823   Lymphopenia                    SNOMEDCT
252   C34807   Marfan Syndrome                ICD10
252   C34807   Marfan Syndrome                ICD9CM
252   C34807   Marfan Syndrome                SNOMEDCT
253   C84442   Metabolic Syndrome             ICD9CM
253   C84442   Metabolic Syndrome             SNOMEDCT
254   C50655   Mitral Valve Prolapse          ICD10
254   C50655   Mitral Valve Prolapse          SNOMEDCT
254   C50655   Mitral Valve Prolapse          SNOMEDCT
254   C50655   Mitral Valve Prolapse          SNOMEDCT
255   C27996   Myocardial Infarction          SNOMEDCT
256   C84489   Narcolepsy                     ICD9CM
256   C84489   Narcolepsy                     SNOMEDCT
257   C3283    Obesity                        ICD10
257   C3283    Obesity                        ICD10
257   C3283    Obesity                        ICD10
257   C3283    Obesity                        ICD9CM
257   C3283    Obesity                        SNOMEDCT
257   C3283    Obesity                        SNOMEDCT
257   C3283    Obesity                        SNOMEDCT
257   C3283    Obesity                        SNOMEDCT
258   C37999   Palpitation                    ICD10
258   C37999   Palpitation                    ICD9CM
258   C37999   Palpitation                    SNOMEDCT
258   C37999   Palpitation                    SNOMEDCT
258   C37999   Palpitation                    SNOMEDCT
258   C37999   Palpitation                    SNOMEDCT
259   C84492   Patent Ductus Arteriosus       ICD10
259   C84492   Patent Ductus Arteriosus       ICD9CM
259   C84492   Patent Ductus Arteriosus       SNOMEDCT
260   C34915   Pericarditis                   SNOMEDCT
261   C84496   Peripheral Arterial Disorder   SNOMEDCT
262   C2871    Pernicious Anemia              ICD9CM
262   C2871    Pernicious Anemia              SNOMEDCT
263   C3336    Polycythemia Vera              ICD10
263   C3336    Polycythemia Vera              ICD9CM
263   C3336    Polycythemia Vera              SNOMEDCT
263   C3336    Polycythemia Vera              SNOMEDCT
263   C3336    Polycythemia Vera              SNOMEDCT
264   C50713   Pulmonary Embolism             ICD10
264   C50713   Pulmonary Embolism             SNOMEDCT
265   C3120    Pulmonary Hypertension         SNOMEDCT
266   C34972   Raynaud's Disease              ICD10
266   C34972   Raynaud's Disease                     ICD9CM
266   C34972   Raynaud's Disease                     SNOMEDCT
266   C34972   Raynaud's Disease                     SNOMEDCT
267   C27561   Respiratory Distress Syndrome
268   C84501   Restless Leg Syndrome                 ICD9CM
268   C84501   Restless Leg Syndrome                 SNOMEDCT
269   C84504   Rh Incompatibility
270   C34995   Sarcoidosis                           ICD10
270   C34995   Sarcoidosis                           ICD10
270   C34995   Sarcoidosis                           ICD9CM
270   C34995   Sarcoidosis                           SNOMEDCT
271   C34383   Sickle Cell Disease                   ICD10
271   C34383   Sickle Cell Disease                   ICD9CM
271   C34383   Sickle Cell Disease                   ICD9CM
271   C34383   Sickle Cell Disease                   SNOMEDCT
271   C34383   Sickle Cell Disease                   SNOMEDCT
271   C34383   Sickle Cell Disease                   SNOMEDCT
271   C34383   Sickle Cell Disease                   SNOMEDCT
272   C26884   Sleep Apnea                           ICD10
272   C26884   Sleep Apnea                           ICD9CM
272   C26884   Sleep Apnea                           SNOMEDCT
272   C26884   Sleep Apnea                           SNOMEDCT
273   C7436    Bronchial Intraepithelial Neoplasia
274   C84505   Tetralogy of Fallot                   ICD10
274   C84505   Tetralogy of Fallot                   ICD9CM
274   C84505   Tetralogy of Fallot                   SNOMEDCT
274   C84505   Tetralogy of Fallot                   SNOMEDCT
274   C84505   Tetralogy of Fallot                   SNOMEDCT
275   C35069   Thalassemia                           ICD10
275   C35069   Thalassemia                           ICD10
275   C35069   Thalassemia                           ICD9CM
275   C35069   Thalassemia                           SNOMEDCT
275   C35069   Thalassemia                           SNOMEDCT
275   C35069   Thalassemia                           SNOMEDCT
276   C3408    Thrombocytopenia                      ICD10
276   C3408    Thrombocytopenia                      ICD9CM
276   C3408    Thrombocytopenia                      SNOMEDCT
276   C3408    Thrombocytopenia                      SNOMEDCT
276   C3408    Thrombocytopenia                      SNOMEDCT
277   C78797   Thrombotic Thrombocytopenic Purpura   ICD9CM
277   C78797   Thrombotic Thrombocytopenic Purpura   SNOMEDCT
278   C45525   Valvular Heart Disorder
279   C35114   Varicose Vein                         SNOMEDCT
279   C35114   Varicose Vein                         SNOMEDCT
279   C35114   Varicose Vein                         SNOMEDCT
279   C35114   Varicose Vein                         SNOMEDCT
279   C35114   Varicose Vein                         SNOMEDCT
280   C26912   Vasculitis                                  SNOMEDCT
281   C84506   Ventricular Septal Defect                   ICD10
281   C84506   Ventricular Septal Defect                   ICD9CM
281   C84506   Ventricular Septal Defect                   SNOMEDCT
281   C84506   Ventricular Septal Defect                   SNOMEDCT
281   C84506   Ventricular Septal Defect                   SNOMEDCT
282   C68677   von Willebrand Disease                      ICD10
282   C68677   von Willebrand Disease                      ICD9CM
282   C68677   von Willebrand Disease                      SNOMEDCT
283   C84396   Acute Liver Failure                         SNOMEDCT
283   C84396   Acute Liver Failure                         SNOMEDCT
284   C26808   Acute Renal Failure                         ICD10
284   C26808   Acute Renal Failure                         ICD10
284   C26808   Acute Renal Failure                         ICD9CM
284   C26808   Acute Renal Failure                         ICD9CM
284   C26808   Acute Renal Failure                         SNOMEDCT
284   C26808   Acute Renal Failure                         SNOMEDCT
285   C35139   Alagille Syndrome                           SNOMEDCT
286   C34783   Alcoholic Liver Disease                     ICD10
286   C34783   Alcoholic Liver Disease                     ICD10
286   C34783   Alcoholic Liver Disease                     ICD9CM
286   C34783   Alcoholic Liver Disease                     SNOMEDCT
286   C34783   Alcoholic Liver Disease                     SNOMEDCT
286   C34783   Alcoholic Liver Disease                     SNOMEDCT
287   C84397   Alpha-1 Antitrypsin Deficiency              ICD9CM
287   C84397   Alpha-1 Antitrypsin Deficiency              SNOMEDCT
288   C84399   Bariatric Surgery
289   C2891    Barrett Esophagus                           ICD9CM
289   C2891    Barrett Esophagus                           SNOMEDCT
289   C2891    Barrett Esophagus                           SNOMEDCT
289   C2891    Barrett Esophagus                           SNOMEDCT
290   C2897    Benign Prostatic Hyperplasia                SNOMEDCT
291   C84402   Benign Recurrent Intrahepatic Cholestasis   SNOMEDCT
292   C84403   Bile Acid Synthesis Defect
293   C34421   Biliary Atresia                             ICD10
293   C34421   Biliary Atresia                             ICD9CM
293   C34421   Biliary Atresia                             SNOMEDCT
293   C34421   Biliary Atresia                             SNOMEDCT
294   C2899    Biliary Tract Disorder                      ICD10
294   C2899    Biliary Tract Disorder                      ICD9CM
294   C2899    Biliary Tract Disorder                      SNOMEDCT
294   C2899    Biliary Tract Disorder                      SNOMEDCT
295   C2900    Bladder Disorder                            ICD10
295   C2900    Bladder Disorder                            ICD9CM
295   C2900    Bladder Disorder                            SNOMEDCT
295   C2900    Bladder Disorder                            SNOMEDCT
296   C2931    Cardiovascular Disorder                     ICD10
296   C2931    Cardiovascular Disorder       ICD9CM
296   C2931    Cardiovascular Disorder       SNOMEDCT
296   C2931    Cardiovascular Disorder       SNOMEDCT
296   C2931    Cardiovascular Disorder       SNOMEDCT
297   C84433   Childhood Diabetes Mellitus
298   C84448   Childhood Renal Disorder
299   C80078   Chronic Kidney Disease        SNOMEDCT
299   C80078   Chronic Kidney Disease        SNOMEDCT
300   C9438    Chronic Renal Failure         ICD10
300   C9438    Chronic Renal Failure         ICD10
300   C9438    Chronic Renal Failure         ICD9CM
300   C9438    Chronic Renal Failure         SNOMEDCT
300   C9438    Chronic Renal Failure         SNOMEDCT
301   C2951    Cirrhosis                     SNOMEDCT
301   C2951    Cirrhosis                     SNOMEDCT
302   C26732   Coronary Artery Disease       SNOMEDCT
303   C2965    Crohn Disease                 ICD10
303   C2965    Crohn Disease                 ICD10
303   C2965    Crohn Disease                 SNOMEDCT
303   C2965    Crohn Disease                 SNOMEDCT
304   C84411   Cryptogenic Cirrhosis         SNOMEDCT
305   C84415   Diabetes Complication         ICD10
305   C84415   Diabetes Complication         ICD9CM
305   C84415   Diabetes Complication         SNOMEDCT
305   C84415   Diabetes Complication         SNOMEDCT
305   C84415   Diabetes Complication         SNOMEDCT
306   C2985    Diabetes Mellitus             ICD10
306   C2985    Diabetes Mellitus             ICD10
306   C2985    Diabetes Mellitus             ICD9CM
306   C2985    Diabetes Mellitus             SNOMEDCT
307   C84420   Diabetic Eye Disease          ICD10
307   C84420   Diabetic Eye Disease          ICD9CM
307   C84420   Diabetic Eye Disease          SNOMEDCT
307   C84420   Diabetic Eye Disease          SNOMEDCT
308   C84417   Diabetic Nephropathy          ICD9CM
308   C84417   Diabetic Nephropathy          SNOMEDCT
308   C84417   Diabetic Nephropathy          SNOMEDCT
308   C84417   Diabetic Nephropathy          SNOMEDCT
309   C84417   Diabetic Nephropathy          ICD9CM
309   C84417   Diabetic Nephropathy          SNOMEDCT
309   C84417   Diabetic Nephropathy          SNOMEDCT
309   C84417   Diabetic Nephropathy          SNOMEDCT
312   C84427   Drug Induced Liver Injury
313   C84428   End Stage Liver Disease
314   C3513    Esophageal Carcinoma          SNOMEDCT
315   C26767   Eye Disorder                  ICD10
315   C26767   Eye Disorder                  ICD10
315   C26767   Eye Disorder                         ICD9CM
315   C26767   Eye Disorder                         ICD9CM
315   C26767   Eye Disorder                         ICD9CM
315   C26767   Eye Disorder                         SNOMEDCT
315   C26767   Eye Disorder                         SNOMEDCT
315   C26767   Eye Disorder                         SNOMEDCT
315   C26767   Eye Disorder                         SNOMEDCT
316   C37308   Focal Segmental Glomerulosclerosis   SNOMEDCT
316   C37308   Focal Segmental Glomerulosclerosis   SNOMEDCT
317   C80512   Gastroparesis                        ICD9CM
317   C80512   Gastroparesis                        SNOMEDCT
317   C80512   Gastroparesis                        SNOMEDCT
319   C26784   Glomerulonephritis                   SNOMEDCT
319   C26784   Glomerulonephritis                   SNOMEDCT
320   C3079    Heart Disorder                       ICD10
320   C3079    Heart Disorder                       ICD9CM
320   C3079    Heart Disorder                       SNOMEDCT
320   C3079    Heart Disorder                       SNOMEDCT
321   C3196    Hepatic Disorder                     ICD10
321   C3196    Hepatic Disorder                     ICD10
321   C3196    Hepatic Disorder                     ICD9CM
321   C3196    Hepatic Disorder                     SNOMEDCT
321   C3196    Hepatic Disorder                     SNOMEDCT
321   C3196    Hepatic Disorder                     SNOMEDCT
322   C3097    Hepatitis B Infection                SNOMEDCT
323   C3098    Hepatitis C Infection                SNOMEDCT
323   C3098    Hepatitis C Infection                SNOMEDCT
324   C3099    Hepatocellular Carcinoma             ICD10
324   C3099    Hepatocellular Carcinoma             SNOMEDCT
324   C3099    Hepatocellular Carcinoma             SNOMEDCT
324   C3099    Hepatocellular Carcinoma             SNOMEDCT
325   C3117    Hypertension                         ICD10
325   C3117    Hypertension                         ICD9CM
325   C3117    Hypertension                         ICD9CM
325   C3117    Hypertension                         SNOMEDCT
325   C3117    Hypertension                         SNOMEDCT
325   C3117    Hypertension                         SNOMEDCT
326   C3137    Inflammation                         SNOMEDCT
326   C3137    Inflammation                         SNOMEDCT
327   C2986    Type 1 Diabetes Mellitus             ICD10
327   C2986    Type 1 Diabetes Mellitus             SNOMEDCT
328   C2986    Type 1 Diabetes Mellitus             ICD10
328   C2986    Type 1 Diabetes Mellitus             SNOMEDCT
329   C27189   Interstitial Cystitis                ICD10
329   C27189   Interstitial Cystitis                ICD9CM
329   C27189   Interstitial Cystitis                SNOMEDCT
329   C27189   Interstitial Cystitis                SNOMEDCT
330   C82343   Irritable Bowel Syndrome                        ICD10
330   C82343   Irritable Bowel Syndrome                        ICD9CM
330   C82343   Irritable Bowel Syndrome                        SNOMEDCT
333   C84412   Liver Disease Associated with Cystic Fibrosis
336   C84442   Metabolic Syndrome                              ICD9CM
336   C84442   Metabolic Syndrome                              SNOMEDCT
337   C84443   Mitochondrial Hepatopathy
338   C84446   Neonatal Hepatitis                              SNOMEDCT
339   C34843   Nephropathy                                     SNOMEDCT
340   C84444   Nonalcoholic Fatty Liver Disease
341   C84445   Nonalcoholic Steatohepatitis
342   C26747   Type 2 Diabetes Mellitus                        ICD10
342   C26747   Type 2 Diabetes Mellitus                        SNOMEDCT
343   C26747   Type 2 Diabetes Mellitus                        ICD10
343   C26747   Type 2 Diabetes Mellitus                        SNOMEDCT
344   C3283    Obesity                                         ICD10
344   C3283    Obesity                                         ICD10
344   C3283    Obesity                                         ICD10
344   C3283    Obesity                                         ICD9CM
344   C3283    Obesity                                         SNOMEDCT
344   C3283    Obesity                                         SNOMEDCT
344   C3283    Obesity                                         SNOMEDCT
344   C3283    Obesity                                         SNOMEDCT
345   C84449   Pediatric Obesity
346   C75464   Polycystic Kidney Disease                       ICD10
346   C75464   Polycystic Kidney Disease                       ICD9CM
346   C75464   Polycystic Kidney Disease                       SNOMEDCT
346   C75464   Polycystic Kidney Disease                       SNOMEDCT
347   C27167   Primary Biliary Cirrhosis                       ICD10
347   C27167   Primary Biliary Cirrhosis                       SNOMEDCT
347   C27167   Primary Biliary Cirrhosis                       SNOMEDCT
348   C4828    Primary Sclerosing Cholangitis                  SNOMEDCT
349   C84453   Progressive Familial Intrahepatic Cholestasis
350   C84457   Proliferative Diabetic Retinopathy              ICD9CM
350   C84457   Proliferative Diabetic Retinopathy              SNOMEDCT
351   C26865   Prostate Disorder                               ICD10
351   C26865   Prostate Disorder                               ICD9CM
351   C26865   Prostate Disorder                               SNOMEDCT
351   C26865   Prostate Disorder                               SNOMEDCT
352   C3149    Renal Disorder                                  SNOMEDCT
352   C3149    Renal Disorder                                  SNOMEDCT
353   C62601   Retinopathy                                     SNOMEDCT
354   C2952    Ulcerative Colitis                              ICD10
354   C2952    Ulcerative Colitis                              ICD10
354   C2952    Ulcerative Colitis                              ICD9CM
354   C2952    Ulcerative Colitis                              ICD9CM
354   C2952    Ulcerative Colitis                              SNOMEDCT
355   C3430    Urinary System Disorder         ICD10
355   C3430    Urinary System Disorder         ICD9CM
355   C3430    Urinary System Disorder         SNOMEDCT
355   C3430    Urinary System Disorder         SNOMEDCT
355   C3430    Urinary System Disorder         SNOMEDCT
355   C3430    Urinary System Disorder         SNOMEDCT
356   C50791   Urinary Tract Infection         ICD10
356   C50791   Urinary Tract Infection         ICD9CM
356   C50791   Urinary Tract Infection         ICD9CM
356   C50791   Urinary Tract Infection         SNOMEDCT
356   C50791   Urinary Tract Infection         SNOMEDCT
356   C50791   Urinary Tract Infection         SNOMEDCT
357   C84459   Vascular Access Graft Failure
358   C35117   Vascular Disorder               SNOMEDCT
359   C84467   Vesicoureteral Reflux           ICD9CM
359   C84467   Vesicoureteral Reflux           SNOMEDCT
360   C12801   Tissue                          SNOMEDCT
361   C34398   Arteriosclerosis                SNOMEDCT
361   C34398   Arteriosclerosis                SNOMEDCT
361   C34398   Arteriosclerosis                SNOMEDCT
361   C34398   Arteriosclerosis                SNOMEDCT
362   C2883    Arthritis                       ICD10
362   C2883    Arthritis                       SNOMEDCT
363   C28397   Asthma                          ICD10
363   C28397   Asthma                          ICD10
363   C28397   Asthma                          ICD9CM
363   C28397   Asthma                          ICD9CM
363   C28397   Asthma                          SNOMEDCT
363   C28397   Asthma                          SNOMEDCT
363   C28397   Asthma                          SNOMEDCT
364   C2891    Barrett Esophagus               ICD9CM
364   C2891    Barrett Esophagus               SNOMEDCT
364   C2891    Barrett Esophagus               SNOMEDCT
364   C2891    Barrett Esophagus               SNOMEDCT
365   C3677    Benign Neoplasm                 ICD10
365   C3677    Benign Neoplasm                 ICD10
365   C3677    Benign Neoplasm                 ICD9CM
365   C3677    Benign Neoplasm                 ICD9CM
365   C3677    Benign Neoplasm                 SNOMEDCT
365   C3677    Benign Neoplasm                 SNOMEDCT
365   C3677    Benign Neoplasm                 SNOMEDCT
365   C3677    Benign Neoplasm                 SNOMEDCT
366   C84389   Bullous Pemphigoid              ICD10
366   C84389   Bullous Pemphigoid              ICD10
366   C84389   Bullous Pemphigoid              ICD10
366   C84389   Bullous Pemphigoid              ICD9CM
366   C84389   Bullous Pemphigoid              SNOMEDCT
366   C84389   Bullous Pemphigoid                      SNOMEDCT
366   C84389   Bullous Pemphigoid                      SNOMEDCT
367   C2931    Cardiovascular Disorder                 ICD10
367   C2931    Cardiovascular Disorder                 ICD9CM
367   C2931    Cardiovascular Disorder                 SNOMEDCT
367   C2931    Cardiovascular Disorder                 SNOMEDCT
367   C2931    Cardiovascular Disorder                 SNOMEDCT
368   C26713   Cataract                                ICD10
368   C26713   Cataract                                ICD9CM
368   C26713   Cataract                                ICD9CM
368   C26713   Cataract                                SNOMEDCT
368   C26713   Cataract                                SNOMEDCT
368   C26713   Cataract                                SNOMEDCT
368   C26713   Cataract                                SNOMEDCT
369   C34460   Cerebral Palsy                          SNOMEDCT
370   C3390    Cerebrovascular Accident                ICD10
370   C3390    Cerebrovascular Accident                SNOMEDCT
370   C3390    Cerebrovascular Accident                SNOMEDCT
370   C3390    Cerebrovascular Accident                SNOMEDCT
371   C80078   Chronic Kidney Disease                  SNOMEDCT
371   C80078   Chronic Kidney Disease                  SNOMEDCT
372   C3199    Chronic Obstructive Pulmonary Disease   ICD10
372   C3199    Chronic Obstructive Pulmonary Disease   SNOMEDCT
372   C3199    Chronic Obstructive Pulmonary Disease   SNOMEDCT
372   C3199    Chronic Obstructive Pulmonary Disease   SNOMEDCT
373   C2951    Cirrhosis                               SNOMEDCT
373   C2951    Cirrhosis                               SNOMEDCT
374   C3080    Congestive Heart Failure                ICD10
374   C3080    Congestive Heart Failure                ICD9CM
374   C3080    Congestive Heart Failure                SNOMEDCT
375   C26732   Coronary Artery Disease                 SNOMEDCT
376   C2965    Crohn Disease                           ICD10
376   C2965    Crohn Disease                           ICD10
376   C2965    Crohn Disease                           SNOMEDCT
376   C2965    Crohn Disease                           SNOMEDCT
377   C2969    Cushing Syndrome                        ICD10
377   C2969    Cushing Syndrome                        ICD10
377   C2969    Cushing Syndrome                        ICD9CM
377   C2969    Cushing Syndrome                        SNOMEDCT
377   C2969    Cushing Syndrome                        SNOMEDCT
378   C4786    Dementia                                ICD10
378   C4786    Dementia                                ICD9CM
378   C4786    Dementia                                SNOMEDCT
378   C4786    Dementia                                SNOMEDCT
379   C2982    Depression                              SNOMEDCT
380   C2983    Dermatitis                              ICD10
380   C2983    Dermatitis                              SNOMEDCT
380   C2983    Dermatitis               SNOMEDCT
380   C2983    Dermatitis               SNOMEDCT
380   C2983    Dermatitis               SNOMEDCT
381   C2985    Diabetes Mellitus        ICD10
381   C2985    Diabetes Mellitus        ICD10
381   C2985    Diabetes Mellitus        ICD9CM
381   C2985    Diabetes Mellitus        SNOMEDCT
382   C4991    AIDS-Related Disorder
383   C26752   Diverticulitis           SNOMEDCT
383   C26752   Diverticulitis           SNOMEDCT
383   C26752   Diverticulitis           SNOMEDCT
383   C26752   Diverticulitis           SNOMEDCT
384   C84390   Eisenmenger Syndrome     SNOMEDCT
385   C3348    Pulmonary Emphysema      ICD10
385   C3348    Pulmonary Emphysema      ICD10
385   C3348    Pulmonary Emphysema      ICD9CM
385   C3348    Pulmonary Emphysema      SNOMEDCT
386   C3014    Endometriosis            ICD10
386   C3014    Endometriosis            ICD10
386   C3014    Endometriosis            ICD9CM
386   C3014    Endometriosis            ICD9CM
386   C3014    Endometriosis            SNOMEDCT
386   C3014    Endometriosis            SNOMEDCT
386   C3014    Endometriosis            SNOMEDCT
387   C26769   Facial Nerve Paralysis   SNOMEDCT
387   C26769   Facial Nerve Paralysis   SNOMEDCT
388   C26782   Glaucoma                 ICD10
388   C26782   Glaucoma                 ICD10
388   C26782   Glaucoma                 ICD10
388   C26782   Glaucoma                 ICD9CM
388   C26782   Glaucoma                 ICD9CM
388   C26782   Glaucoma                 SNOMEDCT
388   C26782   Glaucoma                 SNOMEDCT
389   C26785   Goiter                   ICD9CM
389   C26785   Goiter                   SNOMEDCT
389   C26785   Goiter                   SNOMEDCT
389   C26785   Goiter                   SNOMEDCT
390   C3095    Hepatitis                ICD10
390   C3095    Hepatitis                ICD9CM
390   C3095    Hepatitis                SNOMEDCT
390   C3095    Hepatitis                SNOMEDCT
390   C3095    Hepatitis                SNOMEDCT
391   C3096    Hepatitis A Infection    SNOMEDCT
392   C3097    Hepatitis B Infection    SNOMEDCT
393   C3098    Hepatitis C Infection    SNOMEDCT
393   C3098    Hepatitis C Infection    SNOMEDCT
394   C3113    Hyperplasia              SNOMEDCT
395   C3117    Hypertension               ICD10
395   C3117    Hypertension               ICD9CM
395   C3117    Hypertension               ICD9CM
395   C3117    Hypertension               SNOMEDCT
395   C3117    Hypertension               SNOMEDCT
395   C3117    Hypertension               SNOMEDCT
396   C2986    Type 1 Diabetes Mellitus   ICD10
396   C2986    Type 1 Diabetes Mellitus   SNOMEDCT
397   C82343   Irritable Bowel Syndrome   ICD10
397   C82343   Irritable Bowel Syndrome   ICD9CM
397   C82343   Irritable Bowel Syndrome   SNOMEDCT
398   C3157    Leiomyoma                  SNOMEDCT
398   C3157    Leiomyoma                  SNOMEDCT
398   C3157    Leiomyoma                  SNOMEDCT
399   C3192    Lipoma                     ICD9CM
399   C3192    Lipoma                     ICD9CM
399   C3192    Lipoma                     SNOMEDCT
399   C3192    Lipoma                     SNOMEDCT
399   C3192    Lipoma                     SNOMEDCT
399   C3192    Lipoma                     SNOMEDCT
400   C27153   Lupus Erythematosus        ICD10
400   C27153   Lupus Erythematosus        ICD9CM
400   C27153   Lupus Erythematosus        SNOMEDCT
400   C27153   Lupus Erythematosus        SNOMEDCT
401   C84391   Macular Degeneration       ICD9CM
401   C84391   Macular Degeneration       SNOMEDCT
402   C84392   Mental Retardation         ICD10
402   C84392   Mental Retardation         ICD10
402   C84392   Mental Retardation         ICD9CM
402   C84392   Mental Retardation         ICD9CM
402   C84392   Mental Retardation         SNOMEDCT
402   C84392   Mental Retardation         SNOMEDCT
402   C84392   Mental Retardation         SNOMEDCT
403   C35548   Monoclonal Gammopathy
404   C70938   Mononeuritis Multiplex     ICD10
404   C70938   Mononeuritis Multiplex     ICD9CM
404   C70938   Mononeuritis Multiplex     SNOMEDCT
405   C3243    Multiple Sclerosis         ICD10
405   C3243    Multiple Sclerosis         ICD9CM
405   C3243    Multiple Sclerosis         SNOMEDCT
405   C3243    Multiple Sclerosis         SNOMEDCT
405   C3243    Multiple Sclerosis         SNOMEDCT
406   C26747   Type 2 Diabetes Mellitus   ICD10
406   C26747   Type 2 Diabetes Mellitus   SNOMEDCT
407   C3283    Obesity                    ICD10
407   C3283    Obesity                    ICD10
407   C3283    Obesity                    ICD10
407   C3283    Obesity                          ICD9CM
407   C3283    Obesity                          SNOMEDCT
407   C3283    Obesity                          SNOMEDCT
407   C3283    Obesity                          SNOMEDCT
407   C3283    Obesity                          SNOMEDCT
408   C3293    Osteoarthritis                   ICD9CM
408   C3293    Osteoarthritis                   SNOMEDCT
408   C3293    Osteoarthritis                   SNOMEDCT
408   C3293    Osteoarthritis                   SNOMEDCT
408   C3293    Osteoarthritis                   SNOMEDCT
409   C3298    Osteoporosis                     ICD10
409   C3298    Osteoporosis                     ICD9CM
409   C3298    Osteoporosis                     ICD9CM
409   C3298    Osteoporosis                     SNOMEDCT
409   C3298    Osteoporosis                     SNOMEDCT
409   C3298    Osteoporosis                     SNOMEDCT
410   C3306    Pancreatitis                     SNOMEDCT
411   C3501    Peripheral Sensory Neuropathy    SNOMEDCT
412   C4828    Primary Sclerosing Cholangitis   SNOMEDCT
413   C26866   Prostatitis                      ICD10
413   C26866   Prostatitis                      ICD10
413   C26866   Prostatitis                      ICD9CM
413   C26866   Prostatitis                      ICD9CM
413   C26866   Prostatitis                      SNOMEDCT
413   C26866   Prostatitis                      SNOMEDCT
414   C3346    Psoriasis                        ICD10
414   C3346    Psoriasis                        ICD10
414   C3346    Psoriasis                        SNOMEDCT
414   C3346    Psoriasis                        SNOMEDCT
414   C3346    Psoriasis                        SNOMEDCT
415   C26869   Pulmonary Fibrosis               SNOMEDCT
416   C4376    Renal Failure                    ICD10
416   C4376    Renal Failure                    ICD10
416   C4376    Renal Failure                    ICD9CM
416   C4376    Renal Failure                    SNOMEDCT
416   C4376    Renal Failure                    SNOMEDCT
417   C62601   Retinopathy                      SNOMEDCT
418   C2884    Rheumatoid Arthritis             ICD10
418   C2884    Rheumatoid Arthritis             ICD9CM
418   C2884    Rheumatoid Arthritis             SNOMEDCT
418   C2884    Rheumatoid Arthritis             SNOMEDCT
419   C3362    Schizophrenia                    ICD10
419   C3362    Schizophrenia                    ICD10
419   C3362    Schizophrenia                    ICD9CM
419   C3362    Schizophrenia                    ICD9CM
419   C3362    Schizophrenia                    ICD9CM
419   C3362    Schizophrenia                    SNOMEDCT
419   C3362    Schizophrenia                          SNOMEDCT
419   C3362    Schizophrenia                          SNOMEDCT
419   C3362    Schizophrenia                          SNOMEDCT
419   C3362    Schizophrenia                          SNOMEDCT
420   C84395   Simultanagnosia
421   C2952    Ulcerative Colitis                     ICD10
421   C2952    Ulcerative Colitis                     ICD10
421   C2952    Ulcerative Colitis                     ICD9CM
421   C2952    Ulcerative Colitis                     ICD9CM
421   C2952    Ulcerative Colitis                     SNOMEDCT
422   C78719   Wound Complication
423   C2190    Alcohol                                SNOMEDCT
423   C2190    Alcohol                                SNOMEDCT
424   C25436   Block
425   C63374   Citrate                                SNOMEDCT
425   C63374   Citrate                                SNOMEDCT
426   C84516   Dried Specimen
427   C61742   Edetic Acid                            SNOMEDCT
427   C61742   Edetic Acid                            SNOMEDCT
427   C61742   Edetic Acid                            SNOMEDCT
428   C84515   Fixed Slide
429   C84514   Fixed Specimen
430   C29744   Formaldehyde                           SNOMEDCT
430   C29744   Formaldehyde                           SNOMEDCT
431   C84517   Fresh Specimen
432   C70717   Frozen Specimen
433   C539     Heparin                                SNOMEDCT
433   C539     Heparin                                SNOMEDCT
434   C63523   Optimal Cutting Temperature Compound
435   C63348   RNALater
436   C84518   Touch Prep Slide
437   C84519   Zinc-Based Fixative
438   C27000   Abdominal Aortic Aneurysm              SNOMEDCT
439   C27593   Abducens Nerve Disorder                ICD10
439   C27593   Abducens Nerve Disorder                ICD9CM
439   C27593   Abducens Nerve Disorder                SNOMEDCT
439   C27593   Abducens Nerve Disorder                SNOMEDCT
439   C27593   Abducens Nerve Disorder                SNOMEDCT
440   C84525   Abetalipoproteinemia                   SNOMEDCT
440   C84525   Abetalipoproteinemia                   SNOMEDCT
441   C7419    Acanthoma
442   C26687   Acanthosis Nigricans                   ICD10
442   C26687   Acanthosis Nigricans                   SNOMEDCT
442   C26687   Acanthosis Nigricans                   SNOMEDCT
443   C84526   Acatalasemia                           SNOMEDCT
443   C84526   Acatalasemia                           SNOMEDCT
443   C84526   Acatalasemia                           SNOMEDCT
443   C84526   Acatalasemia                           SNOMEDCT
443   C84526   Acatalasemia                           SNOMEDCT
443   C84526   Acatalasemia                           SNOMEDCT
444   C84527   Achondrogenesis                        ICD10
444   C84527   Achondrogenesis                        SNOMEDCT
445   C34345   Achondroplasia                         ICD10
445   C34345   Achondroplasia                         SNOMEDCT
446   C84528   Achromatopsia                          ICD9CM
446   C84528   Achromatopsia                          SNOMEDCT
447   C3768    Acinar Cell Carcinoma                  SNOMEDCT
448   C3276    Acoustic Schwannoma                    SNOMEDCT
449   C84530   Acquired Hyperostosis Syndrome         SNOMEDCT
450   C84531   Acrocallosal Syndrome
451   C34348   Acrocephalosyndactyly                  ICD9CM
451   C34348   Acrocephalosyndactyly                  SNOMEDCT
451   C34348   Acrocephalosyndactyly                  SNOMEDCT
451   C34348   Acrocephalosyndactyly                  SNOMEDCT
452   C84532   Acrodermatitis                         SNOMEDCT
453   C84533   Acromegaly                             SNOMEDCT
454   C84534   Actinomycetales Infection
455   C34350   Actinomycosis                          ICD10
455   C34350   Actinomycosis                          ICD10
455   C34350   Actinomycosis                          ICD9CM
455   C34350   Actinomycosis                          ICD9CM
455   C34350   Actinomycosis                          SNOMEDCT
455   C34350   Actinomycosis                          SNOMEDCT
455   C34350   Actinomycosis                          SNOMEDCT
455   C34350   Actinomycosis                          SNOMEDCT
456   C34578   Acute Disseminated Encephalomyelitis   ICD10
456   C34578   Acute Disseminated Encephalomyelitis   SNOMEDCT
457   C84535   Acute Hemorrhagic Leukoencephalitis    SNOMEDCT
458   C26790   Acute Infective Polyneuritis           ICD10
458   C26790   Acute Infective Polyneuritis           ICD9CM
458   C26790   Acute Infective Polyneuritis           SNOMEDCT
458   C26790   Acute Infective Polyneuritis           SNOMEDCT
458   C26790   Acute Infective Polyneuritis           SNOMEDCT
458   C26790   Acute Infective Polyneuritis           SNOMEDCT
458   C26790   Acute Infective Polyneuritis           SNOMEDCT
459   C84536   Acute Intermittent Porphyria           SNOMEDCT
459   C84536   Acute Intermittent Porphyria           SNOMEDCT
460   C3170    Acute Megakaryoblastic Leukemia        ICD10
460   C3170    Acute Megakaryoblastic Leukemia        ICD9CM
460   C3170    Acute Megakaryoblastic Leukemia        SNOMEDCT
460   C3170    Acute Megakaryoblastic Leukemia        SNOMEDCT
460   C3170    Acute Megakaryoblastic Leukemia        SNOMEDCT
460   C3170    Acute Megakaryoblastic Leukemia        SNOMEDCT
461   C3171    Acute Myeloid Leukemia                 ICD10
461   C3171    Acute Myeloid Leukemia                            ICD9CM
461   C3171    Acute Myeloid Leukemia                            SNOMEDCT
461   C3171    Acute Myeloid Leukemia                            SNOMEDCT
461   C3171    Acute Myeloid Leukemia                            SNOMEDCT
462   C84537   Acyl-CoA Dehydrogenase, Long-Chain Deficiency     SNOMEDCT
462   C84537   Acyl-CoA Dehydrogenase, Long-Chain Deficiency     SNOMEDCT
463   C84538   Acyl-CoA Dehydrogenase, Medium-Chain Deficiency   SNOMEDCT
463   C84538   Acyl-CoA Dehydrogenase, Medium-Chain Deficiency   SNOMEDCT
464   C84539   Acyl-CoA Dehydrogenase, Short-Chain Deficiency    SNOMEDCT
464   C84539   Acyl-CoA Dehydrogenase, Short-Chain Deficiency    SNOMEDCT
465   C26689   Addison's Disease                                 ICD10
465   C26689   Addison's Disease                                 SNOMEDCT
465   C26689   Addison's Disease                                 SNOMEDCT
466   C2852    Adenocarcinoma                                    SNOMEDCT
466   C2852    Adenocarcinoma                                    SNOMEDCT
467   C2970    Adenoid Cystic Carcinoma                          SNOMEDCT
468   C84540   Adiposis Dolorosa                                 SNOMEDCT
469   C35408   Adrenal Gland Hyperplasia                         SNOMEDCT
470   C2859    Adrenal Gland Neoplasm                            SNOMEDCT
471   C61252   Adrenoleukodystrophy                              SNOMEDCT
472   C84541   African Trypanosomiasis                           ICD10
472   C84541   African Trypanosomiasis                           ICD10
472   C84541   African Trypanosomiasis                           ICD9CM
472   C84541   African Trypanosomiasis                           SNOMEDCT
472   C84541   African Trypanosomiasis                           SNOMEDCT
472   C84541   African Trypanosomiasis                           SNOMEDCT
472   C84541   African Trypanosomiasis                           SNOMEDCT
473   C34700   Aganglionic Megacolon                             ICD10
473   C34700   Aganglionic Megacolon                             SNOMEDCT
473   C34700   Aganglionic Megacolon                             SNOMEDCT
473   C34700   Aganglionic Megacolon                             SNOMEDCT
473   C34700   Aganglionic Megacolon                             SNOMEDCT
474   C84542   Agnosia                                           ICD10
474   C84542   Agnosia                                           SNOMEDCT
474   C84542   Agnosia                                           SNOMEDCT
475   C3471    AIDS-Related Lymphoma
476   C84544   Ainhum                                            ICD10
476   C84544   Ainhum                                            ICD9CM
476   C84544   Ainhum                                            SNOMEDCT
477   C35139   Alagille Syndrome                                 SNOMEDCT
478   C84543   Albinism                                          ICD10
478   C84543   Albinism                                          SNOMEDCT
479   C84545   Alexander Disease                                 SNOMEDCT
480   C84546   Alkaptonuria                                      SNOMEDCT
480   C84546   Alkaptonuria                                      SNOMEDCT
481   C84547   Allergic Bronchopulmonary Aspergillosis           ICD9CM
481   C84547   Allergic Bronchopulmonary Aspergillosis           SNOMEDCT
482   C34368   Alpha Thalassemia                ICD10
482   C34368   Alpha Thalassemia                SNOMEDCT
482   C34368   Alpha Thalassemia                SNOMEDCT
483   C84397   Alpha-1 Antitrypsin Deficiency   ICD9CM
483   C84397   Alpha-1 Antitrypsin Deficiency   SNOMEDCT
484   C84548   Alpha-Mannosidosis               SNOMEDCT
484   C84548   Alpha-Mannosidosis               SNOMEDCT
485   C34842   Alport Syndrome                  SNOMEDCT
486   C84549   Alstrom Syndrome                 SNOMEDCT
487   C3749    Alveolar Rhabdomyosarcoma        SNOMEDCT
487   C3749    Alveolar Rhabdomyosarcoma        SNOMEDCT
488   C3750    Alveolar Soft Part Sarcoma       SNOMEDCT
488   C3750    Alveolar Soft Part Sarcoma       SNOMEDCT
489   C2866    Alzheimer's Disease              ICD10
489   C2866    Alzheimer's Disease              ICD10
489   C2866    Alzheimer's Disease              ICD10
489   C2866    Alzheimer's Disease              ICD10
489   C2866    Alzheimer's Disease              ICD9CM
489   C2866    Alzheimer's Disease              SNOMEDCT
489   C2866    Alzheimer's Disease              SNOMEDCT
489   C2866    Alzheimer's Disease              SNOMEDCT
490   C84550   Amaurosis Fugax                  ICD10
490   C84550   Amaurosis Fugax                  SNOMEDCT
491   C84551   Amebiasis                        ICD10
491   C84551   Amebiasis                        ICD10
491   C84551   Amebiasis                        ICD9CM
491   C84551   Amebiasis                        ICD9CM
491   C84551   Amebiasis                        SNOMEDCT
491   C84551   Amebiasis                        SNOMEDCT
491   C84551   Amebiasis                        SNOMEDCT
491   C84551   Amebiasis                        SNOMEDCT
491   C84551   Amebiasis                        SNOMEDCT
492   C4313    Ameloblastoma                    SNOMEDCT
492   C4313    Ameloblastoma                    SNOMEDCT
493   C84552   Amniotic Band Syndrome           SNOMEDCT
494   C84553   Amyloid Neuropathy               SNOMEDCT
495   C2868    Amyloidosis                      ICD10
495   C2868    Amyloidosis                      ICD10
495   C2868    Amyloidosis                      ICD9CM
495   C2868    Amyloidosis                      ICD9CM
495   C2868    Amyloidosis                      SNOMEDCT
495   C2868    Amyloidosis                      SNOMEDCT
496   C34373   Amyotrophic Lateral Sclerosis    ICD9CM
496   C34373   Amyotrophic Lateral Sclerosis    SNOMEDCT
497   C2877    Anal Neoplasm                    SNOMEDCT
498   C3720    Anaplastic Large Cell Lymphoma   ICD9CM
498   C3720    Anaplastic Large Cell Lymphoma   SNOMEDCT
498   C3720    Anaplastic Large Cell Lymphoma               SNOMEDCT
499   C84559   Andersen Syndrome                            SNOMEDCT
500   C2880    Ovarian Sertoli-Leydig Cell Tumor            SNOMEDCT
500   C2880    Ovarian Sertoli-Leydig Cell Tumor            SNOMEDCT
501   C84560   Anencephaly                                  ICD10
501   C84560   Anencephaly                                  ICD9CM
501   C84560   Anencephaly                                  SNOMEDCT
501   C84560   Anencephaly                                  SNOMEDCT
502   C75462   Angelman Syndrome                            SNOMEDCT
503   C3056    Angiofollicular Lymphoid Hyperplasia         SNOMEDCT
503   C3056    Angiofollicular Lymphoid Hyperplasia         SNOMEDCT
504   C84562   Anhidrotic Ectodermal Dysplasia 1            SNOMEDCT
504   C84562   Anhidrotic Ectodermal Dysplasia 1            SNOMEDCT
505   C84563   Aniridia                                     ICD10
505   C84563   Aniridia                                     ICD9CM
505   C84563   Aniridia                                     SNOMEDCT
506   C84564   Ankylosing Spondylitis                       ICD10
506   C84564   Ankylosing Spondylitis                       ICD9CM
506   C84564   Ankylosing Spondylitis                       SNOMEDCT
507   C84565   Anthrax                                      ICD10
507   C84565   Anthrax                                      ICD10
507   C84565   Anthrax                                      ICD9CM
507   C84565   Anthrax                                      ICD9CM
507   C84565   Anthrax                                      SNOMEDCT
507   C84565   Anthrax                                      SNOMEDCT
507   C84565   Anthrax                                      SNOMEDCT
508   C84566   Anti-Glomerular Basement Membrane Disease
509   C61283   Antiphospholipid Syndrome                    SNOMEDCT
510   C34391   Aortic Arch Syndrome                         SNOMEDCT
511   C84567   Aortic Coarctation                           ICD10
511   C84567   Aortic Coarctation                           ICD9CM
511   C84567   Aortic Coarctation                           ICD9CM
511   C84567   Aortic Coarctation                           SNOMEDCT
511   C84567   Aortic Coarctation                           SNOMEDCT
512   C2870    Aplastic Anemia                              ICD10
512   C2870    Aplastic Anemia                              ICD9CM
512   C2870    Aplastic Anemia                              SNOMEDCT
512   C2870    Aplastic Anemia                              SNOMEDCT
512   C2870    Aplastic Anemia                              SNOMEDCT
513   C3455    Arachnoid Cyst                               SNOMEDCT
514   C37913   Arachnoiditis                                SNOMEDCT
515   C84568   Argininemia                                  SNOMEDCT
516   C84569   Argininosuccinic Aciduria                    SNOMEDCT
517   C84570   Arnold-Chiari Malformation                   ICD10
517   C84570   Arnold-Chiari Malformation                   SNOMEDCT
517   C84570   Arnold-Chiari Malformation                   SNOMEDCT
518   C84571   Arrhythmogenic Right Ventricular Dysplasia   SNOMEDCT
518   C84571   Arrhythmogenic Right Ventricular Dysplasia              SNOMEDCT
519   C84572   Arthrogryposis                                          ICD10
519   C84572   Arthrogryposis                                          SNOMEDCT
519   C84572   Arthrogryposis                                          SNOMEDCT
519   C84572   Arthrogryposis                                          SNOMEDCT
520   C84573   Asbestosis                                              ICD9CM
520   C84573   Asbestosis                                              SNOMEDCT
520   C84573   Asbestosis                                              SNOMEDCT
521   C61273   Aspartylglycosaminuria                                  SNOMEDCT
522   C60781   Astrocytoma                                             SNOMEDCT
523   C2887    Ataxia Telangiectasia Syndrome                          SNOMEDCT
524   C84574   Atrophic Muscular Disorder
525   C84575   Auditory Perceptual Disorder                            SNOMEDCT
526   C34378   Autoimmune Hemolytic Anemia                             ICD9CM
526   C34378   Autoimmune Hemolytic Anemia                             SNOMEDCT
526   C34378   Autoimmune Hemolytic Anemia                             SNOMEDCT
527   C27029   Autoimmune Hepatitis                                    ICD10
527   C27029   Autoimmune Hepatitis                                    ICD9CM
527   C27029   Autoimmune Hepatitis                                    SNOMEDCT
527   C27029   Autoimmune Hepatitis                                    SNOMEDCT
528   C37864   Autoimmune Lymphoproliferative Syndrome
529   C84576   Autoimmune Polyendocrinopathy Syndrome
530   C84577   Autosomal Dominant Optic Atrophy                        SNOMEDCT
531   C84578   Autosomal Dominant Polycystic Kidney Disease            ICD10
531   C84578   Autosomal Dominant Polycystic Kidney Disease            ICD9CM
531   C84578   Autosomal Dominant Polycystic Kidney Disease            SNOMEDCT
532   C84580   Autosomal Recessive Hypohidrotic Ectodermal Dysplasia   SNOMEDCT
533   C84579   Autosomal Recessive Polycystic Kidney Disease           ICD10
533   C84579   Autosomal Recessive Polycystic Kidney Disease           ICD9CM
533   C84579   Autosomal Recessive Polycystic Kidney Disease           SNOMEDCT
534   C84581   Babesiosis                                              ICD10
534   C84581   Babesiosis                                              ICD9CM
534   C84581   Babesiosis                                              SNOMEDCT
535   C84583   Balantidiasis                                           ICD10
535   C84583   Balantidiasis                                           ICD9CM
535   C84583   Balantidiasis                                           SNOMEDCT
535   C84583   Balantidiasis                                           SNOMEDCT
536   C84584   Balkan Endemic Nephropathy                              ICD10
536   C84584   Balkan Endemic Nephropathy                              SNOMEDCT
537   C84585   Barth Syndrome                                          SNOMEDCT
538   C84586   Bartonella Infection                                    ICD10
538   C84586   Bartonella Infection                                    ICD10
538   C84586   Bartonella Infection                                    ICD9CM
538   C84586   Bartonella Infection                                    SNOMEDCT
538   C84586   Bartonella Infection                                    SNOMEDCT
539   C34412   Bartter Syndrome                                        ICD9CM
539   C34412   Bartter Syndrome                                        SNOMEDCT
540   C2892    Nevoid Basal Cell Carcinoma Syndrome         SNOMEDCT
541   C84587   Becker's Muscular Dystrophy                  SNOMEDCT
542   C34415   Beckwith-Wiedemann Syndrome                  SNOMEDCT
542   C34415   Beckwith-Wiedemann Syndrome                  SNOMEDCT
543   C34416   Behcet Syndrome                              ICD10
543   C34416   Behcet Syndrome                              ICD9CM
543   C34416   Behcet Syndrome                              SNOMEDCT
544   C3739    Benign Fibrous Histiocytoma                  SNOMEDCT
544   C3739    Benign Fibrous Histiocytoma                  SNOMEDCT
544   C3739    Benign Fibrous Histiocytoma                  SNOMEDCT
545   C84588   Benign Migratory Glossitis                   ICD10
545   C84588   Benign Migratory Glossitis                   ICD9CM
545   C84588   Benign Migratory Glossitis                   SNOMEDCT
546   C34907   Benign Mucous Membrane Pemphigoid            ICD10
546   C34907   Benign Mucous Membrane Pemphigoid            ICD9CM
546   C34907   Benign Mucous Membrane Pemphigoid            SNOMEDCT
546   C34907   Benign Mucous Membrane Pemphigoid            SNOMEDCT
547   C84593   Benign Neonatal Epilepsy                     SNOMEDCT
548   C84594   Berardinelli-Seip Congenital Lipodystrophy   SNOMEDCT
548   C84594   Berardinelli-Seip Congenital Lipodystrophy   SNOMEDCT
548   C84594   Berardinelli-Seip Congenital Lipodystrophy   SNOMEDCT
548   C84594   Berardinelli-Seip Congenital Lipodystrophy   SNOMEDCT
548   C84594   Berardinelli-Seip Congenital Lipodystrophy   SNOMEDCT
548   C84594   Berardinelli-Seip Congenital Lipodystrophy   SNOMEDCT
549   C84595   Bernard-Soulier Syndrome                     SNOMEDCT
549   C84595   Bernard-Soulier Syndrome                     SNOMEDCT
550   C84596   Beta-Mannosidosis                            SNOMEDCT
551   C84597   Beta-Methylcrotonylglycinuria
552   C51225   Biliary Cirrhosis                            ICD10
552   C51225   Biliary Cirrhosis                            ICD9CM
552   C51225   Biliary Cirrhosis                            SNOMEDCT
552   C51225   Biliary Cirrhosis                            SNOMEDCT
553   C84598   Biotinidase Deficiency                       SNOMEDCT
554   C2901    Bladder Neoplasm                             ICD9CM
554   C2901    Bladder Neoplasm                             SNOMEDCT
554   C2901    Bladder Neoplasm                             SNOMEDCT
555   C34428   Blastomycosis                                ICD10
555   C34428   Blastomycosis                                ICD10
555   C34428   Blastomycosis                                ICD9CM
555   C34428   Blastomycosis                                ICD9CM
555   C34428   Blastomycosis                                SNOMEDCT
555   C34428   Blastomycosis                                SNOMEDCT
555   C34428   Blastomycosis                                SNOMEDCT
555   C34428   Blastomycosis                                SNOMEDCT
555   C34428   Blastomycosis                                SNOMEDCT
556   C2903    Bloom Syndrome                               SNOMEDCT
557   C34880   Bone Necrosis                                ICD10
557   C34880   Bone Necrosis                             ICD10
557   C34880   Bone Necrosis                             SNOMEDCT
558   C3292    Bone Paget Disease                        ICD10
558   C3292    Bone Paget Disease                        ICD10
558   C3292    Bone Paget Disease                        ICD9CM
558   C3292    Bone Paget Disease                        SNOMEDCT
558   C3292    Bone Paget Disease                        SNOMEDCT
558   C3292    Bone Paget Disease                        SNOMEDCT
559   C84599   Botulism                                  ICD10
559   C84599   Botulism                                  SNOMEDCT
559   C84599   Botulism                                  SNOMEDCT
559   C84599   Botulism                                  SNOMEDCT
559   C84599   Botulism                                  SNOMEDCT
560   C27194   Brachial Plexopathy                       ICD10
560   C27194   Brachial Plexopathy                       SNOMEDCT
561   C84600   Brachial Plexus Neuritis                  SNOMEDCT
561   C84600   Brachial Plexus Neuritis                  SNOMEDCT
561   C84600   Brachial Plexus Neuritis                  SNOMEDCT
562   C8967    Brain Iron Accumulation Type I Syndrome   ICD10
562   C8967    Brain Iron Accumulation Type I Syndrome   SNOMEDCT
562   C8967    Brain Iron Accumulation Type I Syndrome   ICD10
562   C8967    Brain Iron Accumulation Type I Syndrome   SNOMEDCT
563   C84601   Brown-Sequard Syndrome                    SNOMEDCT
564   C84602   Brucellosis                               ICD10
564   C84602   Brucellosis                               ICD10
564   C84602   Brucellosis                               ICD9CM
564   C84602   Brucellosis                               ICD9CM
564   C84602   Brucellosis                               SNOMEDCT
564   C84602   Brucellosis                               SNOMEDCT
564   C84602   Brucellosis                               SNOMEDCT
565   C71059   Brugada Syndrome                          SNOMEDCT
566   C84603   Bundle Branch Block                       ICD9CM
566   C84603   Bundle Branch Block                       SNOMEDCT
566   C84603   Bundle Branch Block                       SNOMEDCT
567   C2912    Burkitt Lymphoma                          ICD10
567   C2912    Burkitt Lymphoma                          ICD9CM
567   C2912    Burkitt Lymphoma                          SNOMEDCT
567   C2912    Burkitt Lymphoma                          SNOMEDCT
567   C2912    Burkitt Lymphoma                          SNOMEDCT
567   C2912    Burkitt Lymphoma                          SNOMEDCT
567   C2912    Burkitt Lymphoma                          SNOMEDCT
567   C2912    Burkitt Lymphoma                          SNOMEDCT
567   C2912    Burkitt Lymphoma                          SNOMEDCT
568   C62545   Burning Mouth Syndrome                    SNOMEDCT
569   C84604   Buruli Ulcer                              SNOMEDCT
570   C84605   Byssinosis                                ICD10
570   C84605   Byssinosis                                SNOMEDCT
571   C84606   CADASIL Syndrome
572   C84607   Calciphylaxis                                  SNOMEDCT
573   C84609   Campomelic Dysplasia
574   C84610   Camurati-Engelmann Syndrome                    ICD10
574   C84610   Camurati-Engelmann Syndrome                    SNOMEDCT
575   C84611   Canavan Disease                                SNOMEDCT
576   C62578   Capillary Leak Syndrome                        SNOMEDCT
577   C84612   Carbamoyl-Phosphate Synthetase I Deficiency    SNOMEDCT
578   C84615   Carbohydrate-Deficient Glycoprotein Syndrome   SNOMEDCT
579   C84617   Cardiofaciocutaneous Syndrome                  SNOMEDCT
580   C4705    Carney Syndrome                                SNOMEDCT
581   C84619   Caroli Disease                                 SNOMEDCT
582   C84618   Cataplexy                                      SNOMEDCT
583   C84620   Cat-Scratch Disease                            ICD10
583   C84620   Cat-Scratch Disease                            ICD9CM
583   C84620   Cat-Scratch Disease                            SNOMEDCT
584   C3086    Cavernous Hemangioma                           SNOMEDCT
584   C3086    Cavernous Hemangioma                           SNOMEDCT
585   C83010   Central Core Disease                           SNOMEDCT
586   C84621   Central Nervous System Cavernous Hemangioma
587   C84622   Central Nervous System Vasculitis
588   C84623   Central Pontine Myelinolysis                   ICD10
588   C84623   Central Pontine Myelinolysis                   SNOMEDCT
589   C84624   Cerebellar Degeneration                        SNOMEDCT
590   C84625   Cerebral Amyloid Angiopathy                    ICD10
590   C84625   Cerebral Amyloid Angiopathy                    SNOMEDCT
591   C84626   Cerebral Cavernous Malformation
592   C34461   Cerebrospinal Fluid Otorrhea                   ICD9CM
592   C34461   Cerebrospinal Fluid Otorrhea                   SNOMEDCT
593   C84627   Cerebrospinal Fluid Rhinorrhea                 ICD9CM
593   C84627   Cerebrospinal Fluid Rhinorrhea                 SNOMEDCT
594   C84628   Cerebrotendinous Xanthomatosis                 SNOMEDCT
595   C4392    Cervical Symmetrical Lipomatosis               SNOMEDCT
595   C4392    Cervical Symmetrical Lipomatosis               SNOMEDCT
596   C34411   Cervicocranial Syndrome                        ICD10
596   C34411   Cervicocranial Syndrome                        ICD9CM
596   C34411   Cervicocranial Syndrome                        SNOMEDCT
597   C84629   Chagas Disease                                 ICD10
597   C84629   Chagas Disease                                 SNOMEDCT
598   C75467   Charcot-Marie-Tooth Disease                    ICD10
598   C75467   Charcot-Marie-Tooth Disease                    SNOMEDCT
598   C75467   Charcot-Marie-Tooth Disease                    ICD10
598   C75467   Charcot-Marie-Tooth Disease                    SNOMEDCT
599   C2941    Chediak-Higashi Syndrome                       SNOMEDCT
600   C84630   Cherubism                                      SNOMEDCT
601   C84631   Chilblains                                     ICD10
601   C84631   Chilblains                                     ICD9CM
601   C84631   Chilblains                                          SNOMEDCT
602   C35004   Childhood Schizophrenia                             SNOMEDCT
603   C44959   Chlamydia Psittaci Infection                        ICD10
604   C4436    Cholangiocarcinoma                                  SNOMEDCT
604   C4436    Cholangiocarcinoma                                  SNOMEDCT
605   C34465   Cholecystitis                                       ICD10
605   C34465   Cholecystitis                                       ICD10
605   C34465   Cholecystitis                                       ICD9CM
605   C34465   Cholecystitis                                       SNOMEDCT
605   C34465   Cholecystitis                                       SNOMEDCT
606   C2943    Choledochal Cyst                                    ICD10
606   C2943    Choledochal Cyst                                    SNOMEDCT
606   C2943    Choledochal Cyst                                    SNOMEDCT
607   C84632   Chondrodysplasia Punctata                           ICD10
607   C84632   Chondrodysplasia Punctata                           SNOMEDCT
607   C84632   Chondrodysplasia Punctata                           SNOMEDCT
607   C84632   Chondrodysplasia Punctata                           SNOMEDCT
608   C2946    Chondrosarcoma                                      SNOMEDCT
608   C2946    Chondrosarcoma                                      SNOMEDCT
609   C84633   Chorea                                              SNOMEDCT
610   C3698    Choroid Plexus Papilloma                            SNOMEDCT
611   C34469   Choroideremia                                       ICD9CM
611   C34469   Choroideremia                                       SNOMEDCT
612   C2950    Cytogenetic Abnormality
612   C2950    Cytogenetic Abnormality
613   C34470   Chromosome Disorder                                 ICD10
613   C34470   Chromosome Disorder                                 ICD9CM
613   C34470   Chromosome Disorder                                 ICD9CM
613   C34470   Chromosome Disorder                                 SNOMEDCT
613   C34470   Chromosome Disorder                                 SNOMEDCT
613   C34470   Chromosome Disorder                                 SNOMEDCT
613   C34470   Chromosome Disorder                                 SNOMEDCT
614   C13375   Chromosome Fragile Site
615   C84636   Chronic Inflammatory Demyelinating Polyneuropathy   SNOMEDCT
616   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive     ICD10
616   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive     ICD9CM
616   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive     SNOMEDCT
616   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive     SNOMEDCT
616   C3174    Chronic Myelogenous Leukemia, BCR-ABL1 Positive     SNOMEDCT
617   C84637   Chronic Pancreatitis                                ICD9CM
617   C84637   Chronic Pancreatitis                                SNOMEDCT
617   C84637   Chronic Pancreatitis                                SNOMEDCT
617   C84637   Chronic Pancreatitis                                SNOMEDCT
618   C34481   Churg-Strauss Syndrome                              ICD10
618   C34481   Churg-Strauss Syndrome                              SNOMEDCT
619   C34482   Chylous Ascites                                     SNOMEDCT
620   C84638   Ciliary Motility Defect
621   C84639   Citrullinemia                          SNOMEDCT
621   C84639   Citrullinemia                          SNOMEDCT
621   C84639   Citrullinemia                          SNOMEDCT
622   C84640   Classical Lissencephaly                SNOMEDCT
622   C84640   Classical Lissencephaly                SNOMEDCT
623   C75020   Cleidocranial Dysplasia                SNOMEDCT
624   C84269   Mastocytosis                           ICD10
624   C84269   Mastocytosis                           SNOMEDCT
624   C84269   Mastocytosis                           SNOMEDCT
624   C84269   Mastocytosis                           SNOMEDCT
625   C84641   Clubfoot                               ICD10
625   C84641   Clubfoot                               ICD9CM
625   C84641   Clubfoot                               SNOMEDCT
625   C84641   Clubfoot                               SNOMEDCT
625   C84641   Clubfoot                               SNOMEDCT
626   C34390   Anthracosis                            ICD10
626   C34390   Anthracosis                            ICD9CM
626   C34390   Anthracosis                            SNOMEDCT
627   C84642   Coccidioidomycosis                     ICD10
627   C84642   Coccidioidomycosis                     ICD10
627   C84642   Coccidioidomycosis                     ICD9CM
627   C84642   Coccidioidomycosis                     ICD9CM
627   C84642   Coccidioidomycosis                     SNOMEDCT
627   C84642   Coccidioidomycosis                     SNOMEDCT
627   C84642   Coccidioidomycosis                     SNOMEDCT
628   C34493   Coccidiosis                            ICD9CM
628   C34493   Coccidiosis                            SNOMEDCT
629   C9460    Cockayne Syndrome                      SNOMEDCT
630   C84643   Coffin-Lowry Syndrome                  SNOMEDCT
631   C84644   Cogan-Reese Syndrome                   SNOMEDCT
632   C34497   Coma                                   ICD10
632   C34497   Coma                                   ICD9CM
632   C34497   Coma                                   SNOMEDCT
632   C34497   Coma                                   SNOMEDCT
633   C26725   Common Variable Immunodeficiency       ICD10
633   C26725   Common Variable Immunodeficiency       ICD10
633   C26725   Common Variable Immunodeficiency       ICD9CM
633   C26725   Common Variable Immunodeficiency       SNOMEDCT
634   C34360   Congenital Adrenal Gland Hyperplasia   SNOMEDCT
635   C84645   Congenital Cortical Hyperostosis       SNOMEDCT
636   C84646   Congenital Dyserythropoietic Anemia    ICD10
636   C84646   Congenital Dyserythropoietic Anemia    SNOMEDCT
637   C84647   Congenital Myasthenic Syndrome
638   C84648   Congenital Structural Myopathy         SNOMEDCT
639   C84649   Congenital Syphilis                    ICD10
639   C84649   Congenital Syphilis                    ICD10
639   C84649   Congenital Syphilis                    ICD9CM
639   C84649   Congenital Syphilis                      ICD9CM
639   C84649   Congenital Syphilis                      SNOMEDCT
639   C84649   Congenital Syphilis                      SNOMEDCT
639   C84649   Congenital Syphilis                      SNOMEDCT
640   C84650   Connexin 26 Gene Anomaly
641   C84651   Cor Triatriatum                          ICD10
641   C84651   Cor Triatriatum                          ICD9CM
641   C84651   Cor Triatriatum                          SNOMEDCT
642   C75016   Cornelia De Lange Syndrome               SNOMEDCT
643   C84652   Costello Syndrome                        SNOMEDCT
644   C3076    Cowden Syndrome                          SNOMEDCT
645   C84653   Craniofacial Dysostosis                  ICD10
645   C84653   Craniofacial Dysostosis                  SNOMEDCT
646   C84654   Craniomandibular Disorder
647   C84655   Craniosynostosis                         ICD10
647   C84655   Craniosynostosis                         SNOMEDCT
648   C70646   CREST Syndrome                           ICD10
648   C70646   CREST Syndrome                           SNOMEDCT
648   C70646   CREST Syndrome                           ICD10
648   C70646   CREST Syndrome                           SNOMEDCT
648   C70646   CREST Syndrome                           ICD10
648   C70646   CREST Syndrome                           SNOMEDCT
649   C26802   Creutzfeldt-Jacob Disease                ICD10
649   C26802   Creutzfeldt-Jacob Disease                ICD9CM
649   C26802   Creutzfeldt-Jacob Disease                SNOMEDCT
650   C34518   Cri du Chat Syndrome                     ICD10
650   C34518   Cri du Chat Syndrome                     ICD9CM
650   C34518   Cri du Chat Syndrome                     SNOMEDCT
651   C84656   Crigler-Najjar Syndrome                  ICD10
651   C84656   Crigler-Najjar Syndrome                  SNOMEDCT
651   C84656   Crigler-Najjar Syndrome                  SNOMEDCT
652   C2965    Crohn Disease                            ICD10
652   C2965    Crohn Disease                            ICD10
652   C2965    Crohn Disease                            SNOMEDCT
652   C2965    Crohn Disease                            SNOMEDCT
653   C84657   Cryopyrin-Associated Periodic Syndrome   SNOMEDCT
654   C34768   Cutaneous Leishmaniasis                  ICD10
654   C34768   Cutaneous Leishmaniasis                  SNOMEDCT
655   C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma    SNOMEDCT
655   C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma    SNOMEDCT
656   C84663   Cutis Laxa                               SNOMEDCT
657   C2975    Cystic Fibrosis                          ICD10
657   C2975    Cystic Fibrosis                          ICD10
657   C2975    Cystic Fibrosis                          ICD9CM
657   C2975    Cystic Fibrosis                          SNOMEDCT
657   C2975    Cystic Fibrosis                          SNOMEDCT
658   C34520   Cysticercosis                            ICD10
658   C34520   Cysticercosis                              ICD10
658   C34520   Cysticercosis                              ICD9CM
658   C34520   Cysticercosis                              SNOMEDCT
658   C34520   Cysticercosis                              SNOMEDCT
658   C34520   Cysticercosis                              SNOMEDCT
659   C2976    Cystinosis                                 SNOMEDCT
660   C84664   Cystinuria                                 SNOMEDCT
661   C53649   Cytomegaloviral Infection                  ICD10
661   C53649   Cytomegaloviral Infection                  ICD10
661   C53649   Cytomegaloviral Infection                  ICD9CM
661   C53649   Cytomegaloviral Infection                  SNOMEDCT
661   C53649   Cytomegaloviral Infection                  SNOMEDCT
662   C75012   Dandy-Walker Malformation                  ICD10
662   C75012   Dandy-Walker Malformation                  SNOMEDCT
663   C84665   Darier Disease                             SNOMEDCT
664   C84666   De Sanctis-Cacchione Syndrome              SNOMEDCT
665   C27644   Deafness                                   SNOMEDCT
666   C84521   Deletion 18p Syndrome
667   C84522   Deletion 18q Syndrome
668   C34528   Dengue Fever                               ICD10
668   C34528   Dengue Fever                               ICD9CM
668   C34528   Dengue Fever                               SNOMEDCT
669   C34683   Dengue Hemorrhagic Fever                   ICD10
669   C34683   Dengue Hemorrhagic Fever                   SNOMEDCT
670   C84667   Dentinogenesis Imperfecta                  SNOMEDCT
671   C84668   Denys-Drash Syndrome                       SNOMEDCT
672   C26742   Dermatitis Herpetiformis                   ICD10
672   C26742   Dermatitis Herpetiformis                   ICD9CM
672   C26742   Dermatitis Herpetiformis                   SNOMEDCT
673   C84669   Dextrocardia                               ICD10
673   C84669   Dextrocardia                               SNOMEDCT
674   C43263   Diabetes Insipidus                         ICD10
674   C43263   Diabetes Insipidus                         ICD9CM
674   C43263   Diabetes Insipidus                         SNOMEDCT
675   C61236   Congenital Pure Red Cell Aplasia           SNOMEDCT
675   C61236   Congenital Pure Red Cell Aplasia           SNOMEDCT
675   C61236   Congenital Pure Red Cell Aplasia           SNOMEDCT
675   C61236   Congenital Pure Red Cell Aplasia           SNOMEDCT
676   C84670   Diffuse Cerebral Sclerosis of Schilder     ICD10
676   C84670   Diffuse Cerebral Sclerosis of Schilder     ICD9CM
676   C84670   Diffuse Cerebral Sclerosis of Schilder     SNOMEDCT
677   C84671   Diffuse Idiopathic Skeletal Hyperostosis   ICD10
677   C84671   Diffuse Idiopathic Skeletal Hyperostosis   ICD9CM
677   C84671   Diffuse Idiopathic Skeletal Hyperostosis   SNOMEDCT
678   C3147    Diffuse Palmoplantar Keratoderma           SNOMEDCT
678   C3147    Diffuse Palmoplantar Keratoderma           SNOMEDCT
679   C2989    DiGeorge Syndrome                          ICD10
679   C2989    DiGeorge Syndrome                            ICD9CM
679   C2989    DiGeorge Syndrome                            SNOMEDCT
680   C84672   Dihydropyrimidine Dehydrogenase Deficiency
681   C84673   Dilated Cardiomyopathy                       ICD10
681   C84673   Dilated Cardiomyopathy                       SNOMEDCT
681   C84673   Dilated Cardiomyopathy                       SNOMEDCT
682   C34540   Dipetalonemiasis                             ICD9CM
682   C34540   Dipetalonemiasis                             SNOMEDCT
683   C84675   Distal Muscular Dystrophy                    SNOMEDCT
684   C84676   Donohue Syndrome                             SNOMEDCT
685   C2993    Down Syndrome                                ICD10
685   C2993    Down Syndrome                                ICD10
685   C2993    Down Syndrome                                ICD9CM
685   C2993    Down Syndrome                                SNOMEDCT
685   C2993    Down Syndrome                                SNOMEDCT
685   C2993    Down Syndrome                                ICD10
685   C2993    Down Syndrome                                ICD10
685   C2993    Down Syndrome                                ICD9CM
685   C2993    Down Syndrome                                SNOMEDCT
685   C2993    Down Syndrome                                SNOMEDCT
686   C84677   Dracunculiasis                               ICD10
686   C84677   Dracunculiasis                               ICD9CM
686   C84677   Dracunculiasis                               SNOMEDCT
687   C34553   Dry Eye Syndrome                             ICD9CM
687   C34553   Dry Eye Syndrome                             SNOMEDCT
687   C34553   Dry Eye Syndrome                             ICD9CM
687   C34553   Dry Eye Syndrome                             SNOMEDCT
688   C84678   Duane Syndrome                               ICD9CM
688   C84678   Duane Syndrome                               SNOMEDCT
689   C34741   Dubin-Johnson Syndrome                       SNOMEDCT
690   C75482   Duchenne Muscular Dystrophy                  SNOMEDCT
690   C75482   Duchenne Muscular Dystrophy                  SNOMEDCT
691   C84679   Dystrophia Myotonica 1
692   C84680   Dystrophia Myotonica 2
693   C84681   Ebstein Anomaly                              ICD10
693   C84681   Ebstein Anomaly                              ICD9CM
693   C84681   Ebstein Anomaly                              SNOMEDCT
693   C84681   Ebstein Anomaly                              SNOMEDCT
693   C84681   Ebstein Anomaly                              SNOMEDCT
694   C5560    Eccrine Porocarcinoma                        SNOMEDCT
694   C5560    Eccrine Porocarcinoma                        SNOMEDCT
695   C84682   Echinococcosis                               ICD10
695   C84682   Echinococcosis                               ICD9CM
695   C84682   Echinococcosis                               SNOMEDCT
695   C84682   Echinococcosis                               SNOMEDCT
696   C84683   Ectodermal Dysplasia                         ICD9CM
696   C84683   Ectodermal Dysplasia                         SNOMEDCT
696   C84683   Ectodermal Dysplasia                     SNOMEDCT
697   C34567   Ectromelia                               SNOMEDCT
697   C34567   Ectromelia                               SNOMEDCT
698   C34568   Ehlers-Danlos Syndrome                   ICD10
698   C34568   Ehlers-Danlos Syndrome                   ICD9CM
698   C34568   Ehlers-Danlos Syndrome                   SNOMEDCT
699   C84684   Ellis-Van Creveld Syndrome               ICD10
699   C84684   Ellis-Van Creveld Syndrome               ICD9CM
699   C84684   Ellis-Van Creveld Syndrome               SNOMEDCT
700   C84685   Emery-Dreifuss Muscular Dystrophy        SNOMEDCT
701   C84686   Empty Sella Syndrome                     SNOMEDCT
702   C26760   Encephalitis                             SNOMEDCT
702   C26760   Encephalitis                             SNOMEDCT
703   C84687   Encephalocele                            ICD10
703   C84687   Encephalocele                            ICD10
703   C84687   Encephalocele                            ICD9CM
703   C84687   Encephalocele                            SNOMEDCT
703   C84687   Encephalocele                            SNOMEDCT
703   C84687   Encephalocele                            SNOMEDCT
704   C3008    Enchondromatosis                         ICD10
704   C3008    Enchondromatosis                         SNOMEDCT
705   C84688   Endemic Typhus Fever                     ICD10
705   C84688   Endemic Typhus Fever                     ICD9CM
705   C84688   Endemic Typhus Fever                     SNOMEDCT
706   C8973    Endometrial Stromal Sarcoma
707   C26765   Enteritis                                SNOMEDCT
708   C3016    Eosinophilic Granuloma                   SNOMEDCT
708   C3016    Eosinophilic Granuloma                   SNOMEDCT
709   C3017    Ependymoma                               SNOMEDCT
709   C3017    Ependymoma                               SNOMEDCT
710   C84689   Epidemic Louse-Borne Typhus              ICD10
710   C84689   Epidemic Louse-Borne Typhus              ICD9CM
710   C84689   Epidemic Louse-Borne Typhus              SNOMEDCT
711   C67383   Epidermolysis Bullosa                    ICD10
711   C67383   Epidermolysis Bullosa                    ICD10
711   C67383   Epidermolysis Bullosa                    SNOMEDCT
712   C84690   Epidermolysis Bullosa Acquisita          ICD10
712   C84690   Epidermolysis Bullosa Acquisita          SNOMEDCT
713   C84691   Epidermolysis Bullosa Dystrophica        ICD10
713   C84691   Epidermolysis Bullosa Dystrophica        SNOMEDCT
714   C84692   Epidermolysis Bullosa Simplex            ICD10
714   C84692   Epidermolysis Bullosa Simplex            SNOMEDCT
715   C62569   Epidermolytic Hyperkeratosis             ICD10
715   C62569   Epidermolytic Hyperkeratosis             SNOMEDCT
715   C62569   Epidermolytic Hyperkeratosis             SNOMEDCT
715   C62569   Epidermolytic Hyperkeratosis             SNOMEDCT
716   C84693   Epidermolytic Palmoplantar Keratoderma
717   C3020    Epilepsy                                 ICD10
717   C3020    Epilepsy                                 ICD10
717   C3020    Epilepsy                                 ICD9CM
717   C3020    Epilepsy                                 SNOMEDCT
717   C3020    Epilepsy                                 SNOMEDCT
717   C3020    Epilepsy                                 SNOMEDCT
717   C3020    Epilepsy                                 SNOMEDCT
717   C3020    Epilepsy                                 SNOMEDCT
718   C4298    Epithelioid Hemangioma                   SNOMEDCT
718   C4298    Epithelioid Hemangioma                   SNOMEDCT
720   C84695   Erythema Infectiosum                     ICD10
720   C84695   Erythema Infectiosum                     ICD9CM
720   C84695   Erythema Infectiosum                     SNOMEDCT
721   C84696   Erythrokeratodermia Variabilis           SNOMEDCT
722   C34593   Erythromelalgia                          ICD9CM
722   C34593   Erythromelalgia                          SNOMEDCT
723   C84697   Erythropoietic Porphyria                 ICD10
723   C84697   Erythropoietic Porphyria                 SNOMEDCT
723   C84697   Erythropoietic Porphyria                 SNOMEDCT
723   C84697   Erythropoietic Porphyria                 SNOMEDCT
724   C84698   Erythropoietic Protoporphyria            SNOMEDCT
724   C84698   Erythropoietic Protoporphyria            SNOMEDCT
725   C84699   Esophageal Achalasia                     ICD10
725   C84699   Esophageal Achalasia                     ICD9CM
725   C84699   Esophageal Achalasia                     SNOMEDCT
725   C84699   Esophageal Achalasia                     SNOMEDCT
727   C3302    Extramammary Paget Disease               SNOMEDCT
727   C3302    Extramammary Paget Disease               SNOMEDCT
728   C84701   Fabry Disease
729   C84702   Facial Asymmetry                         SNOMEDCT
730   C84703   Facial Hemiatrophy                       SNOMEDCT
731   C84704   Facioscapulohumeral Muscular Dystrophy   SNOMEDCT
732   C26692   Factor I Deficiency                      SNOMEDCT
732   C26692   Factor I Deficiency                      SNOMEDCT
732   C26692   Factor I Deficiency                      SNOMEDCT
733   C84705   Factor XI Deficiency                     ICD10
733   C84705   Factor XI Deficiency                     ICD9CM
733   C84705   Factor XI Deficiency                     SNOMEDCT
734   C26770   Factor XII Deficiency                    SNOMEDCT
735   C3032    Fallopian Tube Neoplasm                  SNOMEDCT
736   C3339    Adenomatous Polyposis Coli               SNOMEDCT
736   C3339    Adenomatous Polyposis Coli               SNOMEDCT
736   C3339    Adenomatous Polyposis Coli               SNOMEDCT
736   C3339    Adenomatous Polyposis Coli               SNOMEDCT
737   C84554   Familial Amyloid Neuropathy              SNOMEDCT
738   C84555   Familial Amyloidosis
739   C82865   Familial Benign Pemphigus                SNOMEDCT
740   C84706   Familial Dysautonomia                  ICD10
740   C84706   Familial Dysautonomia                  SNOMEDCT
741   C84773   Familial Hypertrophic Cardiomyopathy
742   C84707   Familial Mediterranean Fever           ICD9CM
742   C84707   Familial Mediterranean Fever           SNOMEDCT
743   C84708   Familial Partial Lipodystrophy         SNOMEDCT
744   C84709   Familial Periodic Paralysis            SNOMEDCT
745   C62505   Fanconi Anemia                         SNOMEDCT
746   C3034    Fanconi Syndrome                       SNOMEDCT
746   C3034    Fanconi Syndrome                       SNOMEDCT
746   C3034    Fanconi Syndrome                       SNOMEDCT
746   C3034    Fanconi Syndrome                       SNOMEDCT
747   C84710   Farber Lipogranulomatosis              SNOMEDCT
748   C84711   Fatal Familial Insomnia                ICD9CM
748   C84711   Fatal Familial Insomnia                SNOMEDCT
749   C84712   Felty Syndrome                         ICD10
749   C84712   Felty Syndrome                         ICD9CM
749   C84712   Felty Syndrome                         SNOMEDCT
750   C84713   Fetal Alcohol Syndrome                 ICD10
750   C84713   Fetal Alcohol Syndrome                 ICD10
750   C84713   Fetal Alcohol Syndrome                 ICD9CM
750   C84713   Fetal Alcohol Syndrome                 SNOMEDCT
750   C84713   Fetal Alcohol Syndrome                 SNOMEDCT
750   C84713   Fetal Alcohol Syndrome                 SNOMEDCT
751   C84714   Fibromuscular Dysplasia                ICD10
751   C84714   Fibromuscular Dysplasia                SNOMEDCT
751   C84714   Fibromuscular Dysplasia                SNOMEDCT
751   C84714   Fibromuscular Dysplasia                SNOMEDCT
752   C84715   Focal Dermal Hypoplasia                SNOMEDCT
752   C84715   Focal Dermal Hypoplasia                SNOMEDCT
753   C37308   Focal Segmental Glomerulosclerosis     SNOMEDCT
753   C37308   Focal Segmental Glomerulosclerosis     SNOMEDCT
754   C84716   Fox-Fordyce Disease                    ICD10
754   C84716   Fox-Fordyce Disease                    ICD9CM
754   C84716   Fox-Fordyce Disease                    SNOMEDCT
755   C84717   Fragile X Syndrome                     ICD9CM
755   C84717   Fragile X Syndrome                     SNOMEDCT
756   C84718   Friedreich Ataxia                      ICD9CM
756   C84718   Friedreich Ataxia                      SNOMEDCT
756   C84718   Friedreich Ataxia                      ICD9CM
756   C84718   Friedreich Ataxia                      SNOMEDCT
757   C84719   Frontotemporal Dementia                ICD9CM
757   C84719   Frontotemporal Dementia                SNOMEDCT
758   C84721   Fuchs Endothelial Dystrophy            SNOMEDCT
759   C61274   Fucosidosis                            SNOMEDCT
760   C84722   Fusobacterium Infection
761   C84723   Galactosemia                           ICD9CM
761   C84723   Galactosemia                             SNOMEDCT
761   C84723   Galactosemia                             SNOMEDCT
761   C84723   Galactosemia                             SNOMEDCT
762   C3048    Gallbladder Neoplasm                     SNOMEDCT
763   C3788    Ganglioglioma                            SNOMEDCT
764   C6728    Gardner Syndrome                         SNOMEDCT
765   C84724   Gastric Antral Vascular Ectasia          SNOMEDCT
766   C3868    Gastrointestinal Stromal Tumor           SNOMEDCT
766   C3868    Gastrointestinal Stromal Tumor           SNOMEDCT
767   C84725   Gastroschisis                            ICD10
767   C84725   Gastroschisis                            SNOMEDCT
768   C61268   Gaucher Disease                          SNOMEDCT
768   C61268   Gaucher Disease                          SNOMEDCT
768   C61268   Gaucher Disease                          SNOMEDCT
769   C84726   Genu Varum                               SNOMEDCT
769   C84726   Genu Varum                               SNOMEDCT
770   C84727   Gerstmann-Straussler-Scheinker Disease   ICD9CM
770   C84727   Gerstmann-Straussler-Scheinker Disease   SNOMEDCT
771   C84728   Giant Axonal Neuropathy                  SNOMEDCT
772   C67277   Giant Hypertrophic Gastritis             ICD9CM
772   C67277   Giant Hypertrophic Gastritis             SNOMEDCT
772   C67277   Giant Hypertrophic Gastritis             SNOMEDCT
773   C84729   Gilbert Syndrome                         ICD10
773   C84729   Gilbert Syndrome                         SNOMEDCT
774   C84730   Gitelman Syndrome                        SNOMEDCT
775   C61249   Glanzmann Thrombasthenia                 SNOMEDCT
775   C61249   Glanzmann Thrombasthenia                 SNOMEDCT
776   C3058    Glioblastoma                             SNOMEDCT
776   C3058    Glioblastoma                             SNOMEDCT
777   C3060    Glomus Tumor                             SNOMEDCT
777   C3060    Glomus Tumor                             SNOMEDCT
778   C84937   Glycine Encephalopathy                   SNOMEDCT
779   C61272   Glycogen Storage Disease                 ICD10
779   C61272   Glycogen Storage Disease                 ICD9CM
779   C61272   Glycogen Storage Disease                 SNOMEDCT
779   C61272   Glycogen Storage Disease                 SNOMEDCT
780   C84733   Glycogen Storage Disease Type I          SNOMEDCT
780   C84733   Glycogen Storage Disease Type I          SNOMEDCT
780   C84733   Glycogen Storage Disease Type I          SNOMEDCT
780   C84733   Glycogen Storage Disease Type I          SNOMEDCT
781   C84734   Glycogen Storage Disease Type II         SNOMEDCT
781   C84734   Glycogen Storage Disease Type II         SNOMEDCT
781   C84734   Glycogen Storage Disease Type II         SNOMEDCT
781   C84734   Glycogen Storage Disease Type II         SNOMEDCT
781   C84734   Glycogen Storage Disease Type II         SNOMEDCT
782   C84735   Glycogen Storage Disease Type IIb        SNOMEDCT
783   C84736   Glycogen Storage Disease Type III        SNOMEDCT
783   C84736   Glycogen Storage Disease Type III   SNOMEDCT
784   C84737   Glycogen Storage Disease Type IV    SNOMEDCT
784   C84737   Glycogen Storage Disease Type IV    SNOMEDCT
785   C84738   Glycogen Storage Disease Type V     SNOMEDCT
786   C84739   GM1 Gangliosidosis                  SNOMEDCT
786   C84739   GM1 Gangliosidosis                  SNOMEDCT
786   C84739   GM1 Gangliosidosis                  SNOMEDCT
786   C84739   GM1 Gangliosidosis                  SNOMEDCT
787   C84740   Goldenhar Syndrome                  SNOMEDCT
787   C84740   Goldenhar Syndrome                  SNOMEDCT
787   C84740   Goldenhar Syndrome                  SNOMEDCT
787   C84740   Goldenhar Syndrome                  SNOMEDCT
787   C84740   Goldenhar Syndrome                  SNOMEDCT
788   C34649   Goodpasture Syndrome                ICD9CM
788   C34649   Goodpasture Syndrome                SNOMEDCT
788   C34649   Goodpasture Syndrome                SNOMEDCT
789   C3470    Granuloma Annulare                  ICD10
789   C3470    Granuloma Annulare                  SNOMEDCT
790   C3070    Granulosa Cell Tumor                SNOMEDCT
791   C3071    Graves' Disease                     SNOMEDCT
791   C3071    Graves' Disease                     SNOMEDCT
791   C3071    Graves' Disease                     SNOMEDCT
791   C3071    Graves' Disease                     SNOMEDCT
792   C84741   Gray Platelet Syndrome              SNOMEDCT
793   C84742   Great Vessels Transposition         ICD10
793   C84742   Great Vessels Transposition         ICD9CM
793   C84742   Great Vessels Transposition         ICD9CM
793   C84742   Great Vessels Transposition         SNOMEDCT
793   C84742   Great Vessels Transposition         SNOMEDCT
793   C84742   Great Vessels Transposition         SNOMEDCT
793   C84742   Great Vessels Transposition         SNOMEDCT
794   C84743   Gynatresia
795   C84744   Gyrate Atrophy                      SNOMEDCT
796   C50575   Alopecia                            ICD9CM
796   C50575   Alopecia                            ICD9CM
796   C50575   Alopecia                            SNOMEDCT
796   C50575   Alopecia                            SNOMEDCT
796   C50575   Alopecia                            SNOMEDCT
796   C50575   Alopecia                            SNOMEDCT
797   C7402    Hairy Cell Leukemia                 ICD10
797   C7402    Hairy Cell Leukemia                 ICD9CM
797   C7402    Hairy Cell Leukemia                 SNOMEDCT
797   C7402    Hairy Cell Leukemia                 SNOMEDCT
797   C7402    Hairy Cell Leukemia                 SNOMEDCT
797   C7402    Hairy Cell Leukemia                 SNOMEDCT
798   C35075   Hairy Tongue                        SNOMEDCT
798   C35075   Hairy Tongue                        SNOMEDCT
799   C84745   Hajdu-Cheney Syndrome                   SNOMEDCT
800   C84746   Hallermann Syndrome                     SNOMEDCT
801   C7602    Halo Nevus                              SNOMEDCT
801   C7602    Halo Nevus                              SNOMEDCT
802   C84747   Hantavirus Pulmonary Syndrome           SNOMEDCT
803   C84748   Hartnup Disease                         SNOMEDCT
803   C84748   Hartnup Disease                         SNOMEDCT
804   C27191   Hashimoto Thyroiditis                   ICD9CM
804   C27191   Hashimoto Thyroiditis                   SNOMEDCT
804   C27191   Hashimoto Thyroiditis                   ICD9CM
804   C27191   Hashimoto Thyroiditis                   SNOMEDCT
805   C84750   HELLP Syndrome                          SNOMEDCT
806   C84751   Helminthiasis                           ICD10
806   C84751   Helminthiasis                           ICD10
806   C84751   Helminthiasis                           ICD9CM
806   C84751   Helminthiasis                           ICD9CM
806   C84751   Helminthiasis                           SNOMEDCT
806   C84751   Helminthiasis                           SNOMEDCT
806   C84751   Helminthiasis                           SNOMEDCT
807   C3801    Capillary Hemangioblastoma              SNOMEDCT
808   C3087    Hemangiopericytoma                      SNOMEDCT
808   C3087    Hemangiopericytoma                      SNOMEDCT
809   C84481   Hemochromatosis                         SNOMEDCT
809   C84481   Hemochromatosis                         SNOMEDCT
809   C84481   Hemochromatosis                         SNOMEDCT
810   C34675   Hemoglobin C Disease                    SNOMEDCT
811   C3092    Hemoglobinopathy                        SNOMEDCT
812   C75545   Hemolytic Uremic Syndrome               ICD10
812   C75545   Hemolytic Uremic Syndrome               ICD9CM
812   C75545   Hemolytic Uremic Syndrome               SNOMEDCT
813   C34792   Hemophagocytic Lymphohistiocytosis      ICD10
813   C34792   Hemophagocytic Lymphohistiocytosis      SNOMEDCT
814   C27146   Hemophilia A                            ICD10
814   C27146   Hemophilia A                            ICD9CM
814   C27146   Hemophilia A                            SNOMEDCT
814   C27146   Hemophilia A                            SNOMEDCT
815   C26721   Hemophilia B                            ICD10
815   C26721   Hemophilia B                            ICD9CM
815   C26721   Hemophilia B                            SNOMEDCT
816   C84753   Hemorrhagic Fever with Renal Syndrome   ICD10
816   C84753   Hemorrhagic Fever with Renal Syndrome   ICD9CM
816   C84753   Hemorrhagic Fever with Renal Syndrome   SNOMEDCT
816   C84753   Hemorrhagic Fever with Renal Syndrome   SNOMEDCT
817   C34963   Henoch-Schonlein Purpura                ICD10
817   C34963   Henoch-Schonlein Purpura                ICD9CM
817   C34963   Henoch-Schonlein Purpura                SNOMEDCT
817   C34963   Henoch-Schonlein Purpura                SNOMEDCT
817   C34963   Henoch-Schonlein Purpura                    SNOMEDCT
818   C3099    Hepatocellular Carcinoma                    ICD10
818   C3099    Hepatocellular Carcinoma                    SNOMEDCT
818   C3099    Hepatocellular Carcinoma                    SNOMEDCT
818   C3099    Hepatocellular Carcinoma                    SNOMEDCT
818   C3099    Hepatocellular Carcinoma                    ICD10
818   C3099    Hepatocellular Carcinoma                    SNOMEDCT
818   C3099    Hepatocellular Carcinoma                    SNOMEDCT
818   C3099    Hepatocellular Carcinoma                    SNOMEDCT
819   C84754   Hepatoerythropoietic Porphyria              SNOMEDCT
820   C84756   Hepatolenticular Degeneration               SNOMEDCT
820   C84756   Hepatolenticular Degeneration               SNOMEDCT
820   C84756   Hepatolenticular Degeneration               SNOMEDCT
821   C84758   Hereditary Angioedema                       SNOMEDCT
822   C84757   Hereditary Angioedema Types I and II
823   C84759   Hereditary Coproporphyria                   SNOMEDCT
824   C84720   Hereditary Fructose Intolerance             ICD9CM
824   C84720   Hereditary Fructose Intolerance             SNOMEDCT
825   C34379   Hereditary Hemolytic Anemia                 ICD10
825   C34379   Hereditary Hemolytic Anemia                 ICD9CM
825   C34379   Hereditary Hemolytic Anemia                 ICD9CM
825   C34379   Hereditary Hemolytic Anemia                 SNOMEDCT
825   C34379   Hereditary Hemolytic Anemia                 SNOMEDCT
825   C34379   Hereditary Hemolytic Anemia                 SNOMEDCT
826   C35064   Hereditary Hemorrhagic Telangiectasia       ICD10
826   C35064   Hereditary Hemorrhagic Telangiectasia       ICD9CM
826   C35064   Hereditary Hemorrhagic Telangiectasia       SNOMEDCT
826   C35064   Hereditary Hemorrhagic Telangiectasia       ICD10
826   C35064   Hereditary Hemorrhagic Telangiectasia       ICD9CM
826   C35064   Hereditary Hemorrhagic Telangiectasia       SNOMEDCT
827   C8498    Hereditary Melanoma
828   C84760   Hereditary Mucosal Leukokeratosis
829   C8494    Hereditary Non-Polyposis Colon Cancer       SNOMEDCT
830   C84761   Hereditary Hyperbilirubinemia
831   C37261   Hermansky-Pudlak Syndrome                   SNOMEDCT
832   C45909   Hermaphrodite
833   C84762   Herpes Simplex Encephalitis                 ICD10
833   C84762   Herpes Simplex Encephalitis                 SNOMEDCT
834   C84763   Herpes Zoster Oticus                        ICD9CM
834   C84763   Herpes Zoster Oticus                        ICD9CM
834   C84763   Herpes Zoster Oticus                        SNOMEDCT
834   C84763   Herpes Zoster Oticus                        SNOMEDCT
835   C84764   HFE-Associated Hereditary Hemochromatosis
836   C7563    Hidradenoma                                 SNOMEDCT
836   C7563    Hidradenoma                                 SNOMEDCT
837   C36077   Hilar Cholangiocarcinoma
838   C71719   Histiocytic Necrotizing Lymphadenitis       SNOMEDCT
839   C84523   HMG-CoA Lyase Deficiency    SNOMEDCT
840   C9357    Hodgkin Lymphoma            ICD10
840   C9357    Hodgkin Lymphoma            ICD10
840   C9357    Hodgkin Lymphoma            ICD9CM
840   C9357    Hodgkin Lymphoma            ICD9CM
840   C9357    Hodgkin Lymphoma            ICD9CM
840   C9357    Hodgkin Lymphoma            ICD9CM
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
840   C9357    Hodgkin Lymphoma            SNOMEDCT
841   C34357   Holmes-Adie Syndrome        SNOMEDCT
841   C34357   Holmes-Adie Syndrome        SNOMEDCT
842   C74988   Holoprosencephaly           ICD10
842   C74988   Holoprosencephaly           SNOMEDCT
843   C84765   Homocystinuria              SNOMEDCT
844   C61260   Hunter Syndrome             ICD10
844   C61260   Hunter Syndrome             SNOMEDCT
844   C61260   Hunter Syndrome             ICD10
844   C61260   Hunter Syndrome             SNOMEDCT
845   C82342   Huntington's Disease        ICD10
845   C82342   Huntington's Disease        ICD9CM
845   C82342   Huntington's Disease        SNOMEDCT
846   C61261   Hurler Syndrome             SNOMEDCT
846   C61261   Hurler Syndrome             SNOMEDCT
847   C27562   Hyaline Membrane Syndrome   SNOMEDCT
848   C3110    Hydatidiform Mole           ICD10
848   C3110    Hydatidiform Mole           ICD10
848   C3110    Hydatidiform Mole           ICD10
848   C3110    Hydatidiform Mole           ICD9CM
848   C3110    Hydatidiform Mole           SNOMEDCT
848   C3110    Hydatidiform Mole           SNOMEDCT
848   C3110    Hydatidiform Mole           SNOMEDCT
848   C3110    Hydatidiform Mole           SNOMEDCT
849   C84766   Hydroa Vacciniforme         SNOMEDCT
849   C84766   Hydroa Vacciniforme         SNOMEDCT
850   C3111    Hydrocephalus                               ICD10
850   C3111    Hydrocephalus                               ICD10
850   C3111    Hydrocephalus                               SNOMEDCT
851   C84767   Hydrops Fetalis                             SNOMEDCT
852   C84768   Hymenolepiasis                              ICD10
852   C84768   Hymenolepiasis                              ICD9CM
852   C84768   Hymenolepiasis                              SNOMEDCT
853   C84769   Hyperargininemia                            SNOMEDCT
854   C84770   Hyperhomocysteinemia                        SNOMEDCT
855   C84771   Hyperlipoproteinemia Type I                 ICD10
855   C84771   Hyperlipoproteinemia Type I                 ICD9CM
855   C84771   Hyperlipoproteinemia Type I                 SNOMEDCT
855   C84771   Hyperlipoproteinemia Type I                 SNOMEDCT
855   C84771   Hyperlipoproteinemia Type I                 SNOMEDCT
855   C84771   Hyperlipoproteinemia Type I                 SNOMEDCT
856   C84772   Hyperostosis Frontalis Interna              SNOMEDCT
857   C34449   Hypertrophic Cardiomyopathy                 ICD10
857   C34449   Hypertrophic Cardiomyopathy                 ICD9CM
857   C34449   Hypertrophic Cardiomyopathy                 SNOMEDCT
857   C34449   Hypertrophic Cardiomyopathy                 SNOMEDCT
858   C84774   Hypoalphalipoproteinemia                    SNOMEDCT
858   C84774   Hypoalphalipoproteinemia                    SNOMEDCT
859   C34380   Hypochromic Anemia                          SNOMEDCT
860   C84775   Hypokalemic Periodic Paralysis              SNOMEDCT
860   C84775   Hypokalemic Periodic Paralysis              SNOMEDCT
861   C78350   Hypoparathyroidism                          ICD10
861   C78350   Hypoparathyroidism                          ICD10
861   C78350   Hypoparathyroidism                          ICD9CM
861   C78350   Hypoparathyroidism                          SNOMEDCT
861   C78350   Hypoparathyroidism                          SNOMEDCT
862   C26798   Hypophosphatasia                            SNOMEDCT
862   C26798   Hypophosphatasia                            SNOMEDCT
863   C62591   Hypopituitarism                             ICD10
863   C62591   Hypopituitarism                             SNOMEDCT
863   C62591   Hypopituitarism                             SNOMEDCT
864   C84776   Ichthyosis                                  ICD10
864   C84776   Ichthyosis                                  ICD10
864   C84776   Ichthyosis                                  ICD9CM
864   C84776   Ichthyosis                                  SNOMEDCT
864   C84776   Ichthyosis                                  SNOMEDCT
864   C84776   Ichthyosis                                  SNOMEDCT
865   C84777   Ichthyosis Bullosa of Siemens               SNOMEDCT
866   C84778   Ichthyosis Vulgaris                         ICD10
866   C84778   Ichthyosis Vulgaris                         SNOMEDCT
866   C84778   Ichthyosis Vulgaris                         SNOMEDCT
867   C84780   Idiopathic CD4-Positive T-Lymphocytopenia
868   C84781   Idiopathic Hypersomnolence
869   C35716   Idiopathic Pulmonary Fibrosis         ICD9CM
869   C35716   Idiopathic Pulmonary Fibrosis         SNOMEDCT
869   C35716   Idiopathic Pulmonary Fibrosis         SNOMEDCT
869   C35716   Idiopathic Pulmonary Fibrosis         SNOMEDCT
870   C3446    Idiopathic Thrombocytopenic Purpura   ICD10
870   C3446    Idiopathic Thrombocytopenic Purpura   SNOMEDCT
870   C3446    Idiopathic Thrombocytopenic Purpura   SNOMEDCT
871   C34643   IgA Nephropathy                       SNOMEDCT
871   C34643   IgA Nephropathy                       SNOMEDCT
871   C34643   IgA Nephropathy                       SNOMEDCT
872   C84782   Ileitis                               SNOMEDCT
873   C84783   Immunodeficiency With Hyper-IgM
874   C84784   Imperforate Anus                      SNOMEDCT
874   C84784   Imperforate Anus                      SNOMEDCT
874   C84784   Imperforate Anus                      SNOMEDCT
875   C84785   Inborn Urea Cycle Disorder
876   C84786   Inclusion Body Myositis               SNOMEDCT
877   C84787   Incontinentia Pigmenti                ICD10
877   C84787   Incontinentia Pigmenti                SNOMEDCT
878   C84927   Infantile Neuroaxonal Dystrophy       SNOMEDCT
879   C84789   Infantile Refsum Disease              SNOMEDCT
880   C4001    Inflammatory Breast Carcinoma         SNOMEDCT
881   C84790   Intestinal Atresia
882   C84791   Intracranial Hypertension             SNOMEDCT
883   C84792   Iridocorneal Endothelial Syndrome     SNOMEDCT
884   C65184   Islet Cell Adenoma                    SNOMEDCT
885   C4375    Nesidioblastosis                      SNOMEDCT
885   C4375    Nesidioblastosis                      SNOMEDCT
885   C4375    Nesidioblastosis                      SNOMEDCT
885   C4375    Nesidioblastosis                      SNOMEDCT
886   C75457   Jacobsen Syndrome                     SNOMEDCT
887   C34577   Japanese B Encephalitis               ICD10
887   C34577   Japanese B Encephalitis               ICD9CM
887   C34577   Japanese B Encephalitis               SNOMEDCT
888   C84793   Jervell and Lange Nielsen Syndrome    SNOMEDCT
889   C84794   Jeune Syndrome                        SNOMEDCT
890   C74996   Joubert Syndrome                      SNOMEDCT
891   C9233    Juvenile Myelomonocytic Leukemia      SNOMEDCT
891   C9233    Juvenile Myelomonocytic Leukemia      SNOMEDCT
892   C84796   Juvenile Myoclonic Epilepsy           SNOMEDCT
893   C34999   Juvenile Osteochondrosis of Spine     ICD10
893   C34999   Juvenile Osteochondrosis of Spine     ICD9CM
893   C34999   Juvenile Osteochondrosis of Spine     SNOMEDCT
893   C34999   Juvenile Osteochondrosis of Spine     SNOMEDCT
893   C34999   Juvenile Osteochondrosis of Spine     SNOMEDCT
894   C34771   Kala-Azar                             ICD10
894   C34771   Kala-Azar                             ICD9CM
894   C34771   Kala-Azar                          SNOMEDCT
895   C75479   Kallmann Syndrome                  SNOMEDCT
896   C9087    Kaposi Sarcoma                     ICD10
896   C9087    Kaposi Sarcoma                     ICD10
896   C9087    Kaposi Sarcoma                     ICD9CM
896   C9087    Kaposi Sarcoma                     ICD9CM
896   C9087    Kaposi Sarcoma                     SNOMEDCT
896   C9087    Kaposi Sarcoma                     SNOMEDCT
896   C9087    Kaposi Sarcoma                     SNOMEDCT
897   C84797   Kartagener Syndrome                SNOMEDCT
897   C84797   Kartagener Syndrome                SNOMEDCT
898   C34825   Kawasaki Disease                   ICD10
898   C34825   Kawasaki Disease                   ICD9CM
898   C34825   Kawasaki Disease                   SNOMEDCT
898   C34825   Kawasaki Disease                   SNOMEDCT
899   C84798   Kearns-Sayre Syndrome              SNOMEDCT
900   C3146    Keratoacanthoma                    SNOMEDCT
901   C26806   Keratoconus                        ICD10
901   C26806   Keratoconus                        ICD9CM
901   C26806   Keratoconus                        ICD9CM
901   C26806   Keratoconus                        SNOMEDCT
901   C26806   Keratoconus                        SNOMEDCT
901   C26806   Keratoconus                        SNOMEDCT
902   C84799   Kernicterus                        ICD10
902   C84799   Kernicterus                        ICD10
902   C84799   Kernicterus                        SNOMEDCT
902   C84799   Kernicterus                        SNOMEDCT
902   C84799   Kernicterus                        SNOMEDCT
903   C84800   Kleine-Levin Syndrome              SNOMEDCT
904   C34752   Klinefelter Syndrome               ICD10
904   C34752   Klinefelter Syndrome               ICD10
904   C34752   Klinefelter Syndrome               ICD9CM
904   C34752   Klinefelter Syndrome               SNOMEDCT
904   C34752   Klinefelter Syndrome               SNOMEDCT
904   C34752   Klinefelter Syndrome               ICD10
904   C34752   Klinefelter Syndrome               ICD10
904   C34752   Klinefelter Syndrome               ICD9CM
904   C34752   Klinefelter Syndrome               SNOMEDCT
904   C34752   Klinefelter Syndrome               SNOMEDCT
905   C84801   Klippel-Trenaunay-Weber Syndrome   SNOMEDCT
906   C84802   Kluver-Bucy Syndrome               SNOMEDCT
907   C84803   Korsakoff Syndrome                 SNOMEDCT
908   C61254   Krabbe Disease                     SNOMEDCT
908   C61254   Krabbe Disease                     SNOMEDCT
909   C3153    Krukenberg Tumor                   SNOMEDCT
909   C3153    Krukenberg Tumor                   SNOMEDCT
910   C84804   Lafora Disease                     SNOMEDCT
911   C3155    Lambert Eaton Myasthenic Syndrome     ICD10
911   C3155    Lambert Eaton Myasthenic Syndrome     SNOMEDCT
912   C84805   Lamellar Ichthyosis                   ICD10
912   C84805   Lamellar Ichthyosis                   SNOMEDCT
912   C84805   Lamellar Ichthyosis                   SNOMEDCT
912   C84805   Lamellar Ichthyosis                   SNOMEDCT
913   C84806   Landau-Kleffner Syndrome              ICD10
913   C84806   Landau-Kleffner Syndrome              SNOMEDCT
914   C3107    Langerhans Cell Histiocytosis         SNOMEDCT
914   C3107    Langerhans Cell Histiocytosis         SNOMEDCT
914   C3107    Langerhans Cell Histiocytosis         SNOMEDCT
914   C3107    Langerhans Cell Histiocytosis         SNOMEDCT
915   C35056   Latent Syphilis                       ICD10
915   C35056   Latent Syphilis                       ICD9CM
915   C35056   Latent Syphilis                       SNOMEDCT
916   C84807   Lateral Medullary Syndrome            SNOMEDCT
917   C84808   Leber Hereditary Optic Atrophy        SNOMEDCT
918   C84813   Lecithin Acyltransferase Deficiency   SNOMEDCT
918   C84813   Lecithin Acyltransferase Deficiency   SNOMEDCT
919   C84814   Leigh Disease                         SNOMEDCT
920   C3158    Leiomyosarcoma                        SNOMEDCT
920   C3158    Leiomyosarcoma                        SNOMEDCT
921   C34767   Leishmaniasis                         ICD10
921   C34767   Leishmaniasis                         ICD10
921   C34767   Leishmaniasis                         ICD9CM
921   C34767   Leishmaniasis                         ICD9CM
921   C34767   Leishmaniasis                         SNOMEDCT
921   C34767   Leishmaniasis                         SNOMEDCT
921   C34767   Leishmaniasis                         SNOMEDCT
922   C84816   Lennox-Gastaut Syndrome               SNOMEDCT
922   C84816   Lennox-Gastaut Syndrome               SNOMEDCT
923   C84820   LEOPARD Syndrome                      SNOMEDCT
923   C84820   LEOPARD Syndrome                      SNOMEDCT
924   C84824   Leprosy                               ICD10
924   C84824   Leprosy                               ICD10
924   C84824   Leprosy                               ICD9CM
924   C84824   Leprosy                               ICD9CM
924   C84824   Leprosy                               SNOMEDCT
924   C84824   Leprosy                               SNOMEDCT
924   C84824   Leprosy                               SNOMEDCT
925   C84825   Leptospirosis                         ICD10
925   C84825   Leptospirosis                         ICD10
925   C84825   Leptospirosis                         ICD9CM
925   C84825   Leptospirosis                         ICD9CM
925   C84825   Leptospirosis                         SNOMEDCT
925   C84825   Leptospirosis                         SNOMEDCT
925   C84825   Leptospirosis                         SNOMEDCT
925   C84825   Leptospirosis                             SNOMEDCT
925   C84825   Leptospirosis                             ICD10
925   C84825   Leptospirosis                             ICD10
925   C84825   Leptospirosis                             ICD9CM
925   C84825   Leptospirosis                             ICD9CM
925   C84825   Leptospirosis                             SNOMEDCT
925   C84825   Leptospirosis                             SNOMEDCT
925   C84825   Leptospirosis                             SNOMEDCT
925   C84825   Leptospirosis                             SNOMEDCT
926   C61255   Lesch-Nyhan Syndrome                      ICD10
926   C61255   Lesch-Nyhan Syndrome                      SNOMEDCT
926   C61255   Lesch-Nyhan Syndrome                      SNOMEDCT
927   C84826   Lewy Body Dementia                        ICD9CM
927   C84826   Lewy Body Dementia                        SNOMEDCT
927   C84826   Lewy Body Dementia                        SNOMEDCT
927   C84826   Lewy Body Dementia                        ICD9CM
927   C84826   Lewy Body Dementia                        SNOMEDCT
927   C84826   Lewy Body Dementia                        SNOMEDCT
928   C26817   Lichen Sclerosus et Atrophicus            ICD10
928   C26817   Lichen Sclerosus et Atrophicus            SNOMEDCT
929   C84827   Liddle Syndrome                           SNOMEDCT
930   C3476    Li-Fraumeni Syndrome                      SNOMEDCT
931   C84828   Limb-Girdle Muscular Dystrophy            SNOMEDCT
932   C4350    Limbic Encephalitis                       SNOMEDCT
933   C84829   Lipoid Proteinosis of Urbach and Wiethe   SNOMEDCT
934   C72069   Localized Scleroderma                     ICD10
934   C72069   Localized Scleroderma                     ICD9CM
934   C72069   Localized Scleroderma                     SNOMEDCT
934   C72069   Localized Scleroderma                     SNOMEDCT
934   C72069   Localized Scleroderma                     SNOMEDCT
935   C36535   Loss of Chromosome 8
936   C8965    Lymphangioma                              ICD10
936   C8965    Lymphangioma                              ICD9CM
936   C8965    Lymphangioma                              SNOMEDCT
936   C8965    Lymphangioma                              SNOMEDCT
936   C8965    Lymphangioma                              SNOMEDCT
936   C8965    Lymphangioma                              SNOMEDCT
936   C8965    Lymphangioma                              SNOMEDCT
936   C8965    Lymphangioma                              SNOMEDCT
937   C3725    Lymphangioleiomyomatosis                  SNOMEDCT
938   C3207    Lymphedema                                SNOMEDCT
938   C3207    Lymphedema                                SNOMEDCT
939   C84830   Machado-Joseph Disease                    SNOMEDCT
940   C84832   Macroglossia                              SNOMEDCT
941   C84833   Malakoplakia                              SNOMEDCT
941   C84833   Malakoplakia                              SNOMEDCT
942   C34797   Malaria                                   ICD10
942   C34797   Malaria                                   ICD9CM
942   C34797   Malaria                                   ICD9CM
942   C34797   Malaria                                   SNOMEDCT
942   C34797   Malaria                                   SNOMEDCT
942   C34797   Malaria                                   SNOMEDCT
942   C34797   Malaria                                   SNOMEDCT
942   C34797   Malaria                                   SNOMEDCT
943   C84834   Malformations of Cortical Development
944   C84835   Malignant Atrophic Papulosis              SNOMEDCT
944   C84835   Malignant Atrophic Papulosis              SNOMEDCT
945   C4247    Malignant Fibrous Histiocytoma            SNOMEDCT
945   C4247    Malignant Fibrous Histiocytoma            SNOMEDCT
946   C84869   Malignant Hyperthermia Syndrome
947   C3798    Malignant Peripheral Nerve Sheath Tumor   SNOMEDCT
948   C84881   Mallory-Weiss Syndrome                    ICD10
948   C84881   Mallory-Weiss Syndrome                    ICD9CM
948   C84881   Mallory-Weiss Syndrome                    SNOMEDCT
948   C84881   Mallory-Weiss Syndrome                    SNOMEDCT
949   C84882   Mansonelliasis                            ICD10
949   C84882   Mansonelliasis                            SNOMEDCT
950   C34806   Maple Syrup Urine Disease                 ICD10
950   C34806   Maple Syrup Urine Disease                 SNOMEDCT
951   C84883   Marburg Virus Disease                     ICD10
951   C84883   Marburg Virus Disease                     SNOMEDCT
953   C34807   Marfan Syndrome                           ICD10
953   C34807   Marfan Syndrome                           ICD9CM
953   C34807   Marfan Syndrome                           SNOMEDCT
954   C61264   Maroteaux-Lamy Syndrome                   SNOMEDCT
954   C61264   Maroteaux-Lamy Syndrome                   SNOMEDCT
954   C61264   Maroteaux-Lamy Syndrome                   SNOMEDCT
954   C61264   Maroteaux-Lamy Syndrome                   SNOMEDCT
955   C3169    Mast Cell Leukemia                        ICD10
955   C3169    Mast Cell Leukemia                        SNOMEDCT
955   C3169    Mast Cell Leukemia                        SNOMEDCT
956   C34751   Medullary Sponge Kidney                   ICD9CM
956   C34751   Medullary Sponge Kidney                   SNOMEDCT
956   C34751   Medullary Sponge Kidney                   SNOMEDCT
957   C3222    Medulloblastoma                           SNOMEDCT
957   C3222    Medulloblastoma                           SNOMEDCT
958   C84795   Meesmann Corneal Dystrophy                ICD9CM
958   C84795   Meesmann Corneal Dystrophy                SNOMEDCT
959   C34382   Megaloblastic Anemia                      SNOMEDCT
959   C34382   Megaloblastic Anemia                      SNOMEDCT
959   C34382   Megaloblastic Anemia                      SNOMEDCT
960   C84885   MELAS Syndrome                            SNOMEDCT
961   C84886   Melkersson-Rosenthal Syndrome             ICD10
961   C84886   Melkersson-Rosenthal Syndrome             SNOMEDCT
961   C84886   Melkersson-Rosenthal Syndrome                           SNOMEDCT
962   C84887   Melorheostosis                                          SNOMEDCT
963   C84888   Meningeal Tuberculosis                                  ICD10
963   C84888   Meningeal Tuberculosis                                  ICD9CM
963   C84888   Meningeal Tuberculosis                                  ICD9CM
963   C84888   Meningeal Tuberculosis                                  SNOMEDCT
963   C84888   Meningeal Tuberculosis                                  SNOMEDCT
964   C75486   Menkes Disease                                          SNOMEDCT
964   C75486   Menkes Disease                                          SNOMEDCT
965   C84889   MERRF Syndrome                                          SNOMEDCT
965   C84889   MERRF Syndrome                                          SNOMEDCT
965   C84889   MERRF Syndrome                                          SNOMEDCT
966   C84442   Metabolic Syndrome                                      ICD9CM
966   C84442   Metabolic Syndrome                                      SNOMEDCT
967   C61251   Metachromatic Leukodystrophy                            SNOMEDCT
967   C61251   Metachromatic Leukodystrophy                            SNOMEDCT
967   C61251   Metachromatic Leukodystrophy                            SNOMEDCT
967   C61251   Metachromatic Leukodystrophy                            SNOMEDCT
968   C84524   5' 10' Methylenetetrahydrofolate Reductase Deficiency   SNOMEDCT
969   C84890   Mevalonate Kinase Deficiency                            SNOMEDCT
970   C70549   Microscopic Polyarteritis
971   C84891   Microsporidiosis                                        SNOMEDCT
971   C84891   Microsporidiosis                                        SNOMEDCT
972   C34844   Minimal Change Glomerulonephritis
973   C84892   Mixed Connective Tissue Disease                         SNOMEDCT
973   C84892   Mixed Connective Tissue Disease                         SNOMEDCT
974   C84893   Mobius Syndrome                                         SNOMEDCT
975   C84894   Monilethrix                                             SNOMEDCT
976   C61263   Morquio Syndrome                                        SNOMEDCT
977   C84895   Moyamoya Disease                                        ICD10
977   C84895   Moyamoya Disease                                        ICD9CM
977   C84895   Moyamoya Disease                                        SNOMEDCT
977   C84895   Moyamoya Disease                                        SNOMEDCT
978   C61267   Mucolipidosis                                           SNOMEDCT
979   C84896   Mucolipidosis Type IV                                   SNOMEDCT
980   C85053   Mucopolysaccharidosis Type I                            ICD10
980   C85053   Mucopolysaccharidosis Type I                            SNOMEDCT
981   C84897   Mucopolysaccharidosis Type IIIA                         SNOMEDCT
982   C84898   Mucopolysaccharidosis Type IIIB                         SNOMEDCT
983   C84899   Mucopolysaccharidosis Type IIIC                         SNOMEDCT
984   C84900   Mucopolysaccharidosis Type IIID                         SNOMEDCT
985   C84901   Mucopolysaccharidosis Type IVA
986   C84902   Mucopolysaccharidosis Type IVB                          SNOMEDCT
987   C84904   Muenke Syndrome
988   C84905   Muir-Torre Syndrome                                     SNOMEDCT
989   C84906   Mulibrey Nanism                                         SNOMEDCT
990   C34522   Multi-Infarct Dementia                                  ICD10
 990   C34522   Multi-Infarct Dementia                       SNOMEDCT
 991   C84907   Multiple Acyl-CoA Dehydrogenase Deficiency   SNOMEDCT
 992   C6432    Multiple Endocrine Neoplasia                 SNOMEDCT
 992   C6432    Multiple Endocrine Neoplasia                 SNOMEDCT
 993   C3225    Multiple Endocrine Neoplasia Type 1          ICD9CM
 993   C3225    Multiple Endocrine Neoplasia Type 1          SNOMEDCT
 994   C3226    Multiple Endocrine Neoplasia Type 2A         ICD9CM
 994   C3226    Multiple Endocrine Neoplasia Type 2A         SNOMEDCT
 995   C3227    Multiple Endocrine Neoplasia Type 2B         SNOMEDCT
 996   C53457   Multiple Osteochondromas                     SNOMEDCT
 996   C53457   Multiple Osteochondromas                     SNOMEDCT
 997   C84908   Multiple Sulfatase Deficiency Disease        SNOMEDCT
 998   C84909   Multiple System Atrophy                      SNOMEDCT
 999   C84910   Muscular Dystrophy                           ICD10
 999   C84910   Muscular Dystrophy                           ICD9CM
 999   C84910   Muscular Dystrophy                           SNOMEDCT
 999   C84910   Muscular Dystrophy                           SNOMEDCT
 999   C84910   Muscular Dystrophy                           SNOMEDCT
1000   C3246    Mycosis Fungoides                            ICD10
1000   C3246    Mycosis Fungoides                            ICD9CM
1000   C3246    Mycosis Fungoides                            SNOMEDCT
1000   C3246    Mycosis Fungoides                            SNOMEDCT
1000   C3246    Mycosis Fungoides                            SNOMEDCT
1000   C3246    Mycosis Fungoides                            SNOMEDCT
1000   C3246    Mycosis Fungoides                            SNOMEDCT
1001   C3247    Myelodysplastic Syndrome                     ICD10
1001   C3247    Myelodysplastic Syndrome                     ICD10
1001   C3247    Myelodysplastic Syndrome                     ICD9CM
1001   C3247    Myelodysplastic Syndrome                     SNOMEDCT
1001   C3247    Myelodysplastic Syndrome                     SNOMEDCT
1001   C3247    Myelodysplastic Syndrome                     SNOMEDCT
1001   C3247    Myelodysplastic Syndrome                     SNOMEDCT
1002   C3520    Myeloid Sarcoma                              ICD10
1002   C3520    Myeloid Sarcoma                              ICD9CM
1002   C3520    Myeloid Sarcoma                              SNOMEDCT
1002   C3520    Myeloid Sarcoma                              SNOMEDCT
1002   C3520    Myeloid Sarcoma                              SNOMEDCT
1002   C3520    Myeloid Sarcoma                              SNOMEDCT
1002   C3520    Myeloid Sarcoma                              SNOMEDCT
1003   C84911   Myokymia                                     SNOMEDCT
1004   C27578   Myositis                                     ICD10
1004   C27578   Myositis                                     ICD10
1004   C27578   Myositis                                     SNOMEDCT
1004   C27578   Myositis                                     SNOMEDCT
1004   C27578   Myositis                                     SNOMEDCT
1005   C3253    Myositis Ossificans                          SNOMEDCT
1006   C84912   Myotonia Congenita                           ICD9CM
1006   C84912   Myotonia Congenita                                          SNOMEDCT
1007   C84913   Myotonic Disorder                                           ICD10
1007   C84913   Myotonic Disorder                                           ICD9CM
1007   C84913   Myotonic Disorder                                           SNOMEDCT
1007   C84913   Myotonic Disorder                                           SNOMEDCT
1008   C84914   Myotonic Dystrophy                                          SNOMEDCT
1009   C75120   Nail-Patella Syndrome                                       SNOMEDCT
1010   C84489   Narcolepsy                                                  ICD9CM
1010   C84489   Narcolepsy                                                  SNOMEDCT
1011   C8196    Nasal Cavity and Paranasal Sinus Lethal Midline Granuloma   ICD10
1011   C8196    Nasal Cavity and Paranasal Sinus Lethal Midline Granuloma   ICD9CM
1011   C8196    Nasal Cavity and Paranasal Sinus Lethal Midline Granuloma   SNOMEDCT
1012   C3257    Nasopharyngeal Neoplasm                                     SNOMEDCT
1013   C84915   Necrotizing Enterocolitis                                   ICD10
1013   C84915   Necrotizing Enterocolitis                                   SNOMEDCT
1013   C84915   Necrotizing Enterocolitis                                   SNOMEDCT
1013   C84915   Necrotizing Enterocolitis                                   SNOMEDCT
1014   C84916   Necrotizing Fasciitis                                       ICD9CM
1014   C84916   Necrotizing Fasciitis                                       SNOMEDCT
1015   C34637   Necrotizing Ulcerative Gingivitis                           ICD10
1015   C34637   Necrotizing Ulcerative Gingivitis                           SNOMEDCT
1015   C34637   Necrotizing Ulcerative Gingivitis                           SNOMEDCT
1015   C34637   Necrotizing Ulcerative Gingivitis                           SNOMEDCT
1015   C34637   Necrotizing Ulcerative Gingivitis                           SNOMEDCT
1016   C84917   Nelson Syndrome                                             ICD10
1016   C84917   Nelson Syndrome                                             SNOMEDCT
1017   C27560   Neonatal Respiratory Distress Syndrome                      ICD10
1017   C27560   Neonatal Respiratory Distress Syndrome                      ICD10
1017   C27560   Neonatal Respiratory Distress Syndrome                      ICD10
1017   C27560   Neonatal Respiratory Distress Syndrome                      ICD9CM
1017   C27560   Neonatal Respiratory Distress Syndrome                      SNOMEDCT
1018   C2879    Neoplasm of the Diffuse Neuroendocrine System               SNOMEDCT
1018   C2879    Neoplasm of the Diffuse Neuroendocrine System               SNOMEDCT
1019   C84918   Nephrocalcinosis                                            SNOMEDCT
1020   C84919   Nephrogenic Diabetes Insipidus                              ICD10
1020   C84919   Nephrogenic Diabetes Insipidus                              ICD9CM
1020   C84919   Nephrogenic Diabetes Insipidus                              SNOMEDCT
1021   C84920   Nephrogenic Fibrosing Dermopathy                            SNOMEDCT
1022   C84922   Netherton Syndrome                                          SNOMEDCT
1022   C84922   Netherton Syndrome                                          SNOMEDCT
1022   C84922   Netherton Syndrome                                          SNOMEDCT
1023   C84923   Neural Tube Defect                                          ICD10
1023   C84923   Neural Tube Defect                                          ICD10
1023   C84923   Neural Tube Defect                                          ICD9CM
1023   C84923   Neural Tube Defect                                          SNOMEDCT
1023   C84923   Neural Tube Defect                                          SNOMEDCT
1023   C84923   Neural Tube Defect                                          ICD10
1023   C84923   Neural Tube Defect               ICD10
1023   C84923   Neural Tube Defect               ICD9CM
1023   C84923   Neural Tube Defect               SNOMEDCT
1023   C84923   Neural Tube Defect               SNOMEDCT
1024   C84926   Neuroacanthocytosis              SNOMEDCT
1024   C84926   Neuroacanthocytosis              SNOMEDCT
1025   C3270    Neuroblastoma                    SNOMEDCT
1025   C3270    Neuroblastoma                    SNOMEDCT
1025   C3270    Neuroblastoma                    SNOMEDCT
1026   C84932   Neurocysticercosis               ICD10
1026   C84932   Neurocysticercosis               SNOMEDCT
1026   C84932   Neurocysticercosis               SNOMEDCT
1027   C9231    Merkel Cell Carcinoma            SNOMEDCT
1027   C9231    Merkel Cell Carcinoma            SNOMEDCT
1027   C9231    Merkel Cell Carcinoma            SNOMEDCT
1028   C3809    Neuroendocrine Neoplasm          ICD9CM
1028   C3809    Neuroendocrine Neoplasm          ICD9CM
1028   C3809    Neuroendocrine Neoplasm          SNOMEDCT
1028   C3809    Neuroendocrine Neoplasm          SNOMEDCT
1029   C3272    Neurofibroma                     SNOMEDCT
1029   C3272    Neurofibroma                     SNOMEDCT
1029   C3272    Neurofibroma                     SNOMEDCT
1029   C3272    Neurofibroma                     SNOMEDCT
1030   C6727    Neurofibromatosis                ICD9CM
1030   C6727    Neurofibromatosis                ICD9CM
1030   C6727    Neurofibromatosis                SNOMEDCT
1030   C6727    Neurofibromatosis                SNOMEDCT
1031   C3273    Neurofibromatosis Type 1         ICD9CM
1031   C3273    Neurofibromatosis Type 1         SNOMEDCT
1031   C3273    Neurofibromatosis Type 1         SNOMEDCT
1031   C3273    Neurofibromatosis Type 1         ICD9CM
1031   C3273    Neurofibromatosis Type 1         SNOMEDCT
1031   C3273    Neurofibromatosis Type 1         SNOMEDCT
1032   C3274    Neurofibromatosis Type 2         ICD9CM
1032   C3274    Neurofibromatosis Type 2         SNOMEDCT
1032   C3274    Neurofibromatosis Type 2         ICD9CM
1032   C3274    Neurofibromatosis Type 2         SNOMEDCT
1033   C84933   Neurogenic Diabetes Insipidus    SNOMEDCT
1034   C84934   Neuromyelitis Optica             ICD10
1034   C84934   Neuromyelitis Optica             ICD9CM
1034   C84934   Neuromyelitis Optica             SNOMEDCT
1035   C61257   Neuronal Ceroid Lipofuscinosis   ICD10
1035   C61257   Neuronal Ceroid Lipofuscinosis   SNOMEDCT
1036   C84935   Neurosyphilis                    ICD10
1036   C84935   Neurosyphilis                    ICD9CM
1036   C84935   Neurosyphilis                    ICD9CM
1036   C84935   Neurosyphilis                    SNOMEDCT
1036   C84935   Neurosyphilis                                       SNOMEDCT
1036   C84935   Neurosyphilis                                       SNOMEDCT
1037   C27961   Neurotoxicity Syndrome                              SNOMEDCT
1038   C61269   Niemann-Pick Disease                                SNOMEDCT
1039   C85214   Niemann-Pick Disease, Type C                        SNOMEDCT
1040   C34850   Night Blindness                                     ICD10
1040   C34850   Night Blindness                                     ICD9CM
1040   C34850   Night Blindness                                     ICD9CM
1040   C34850   Night Blindness                                     SNOMEDCT
1040   C34850   Night Blindness                                     SNOMEDCT
1040   C34850   Night Blindness                                     SNOMEDCT
1041   C4692    Nijmegen Breakage Syndrome                          SNOMEDCT
1042   C34852   Gangrenous Stomatitis                               ICD9CM
1042   C34852   Gangrenous Stomatitis                               SNOMEDCT
1042   C34852   Gangrenous Stomatitis                               SNOMEDCT
1043   C2926    Non-Small Cell Lung Carcinoma                       SNOMEDCT
1044   C84561   Non-Trisomic Autosomal Aneuploidy
1045   C34854   Noonan Syndrome                                     SNOMEDCT
1045   C34854   Noonan Syndrome                                     SNOMEDCT
1046   C84938   Ochronosis                                          SNOMEDCT
1047   C84939   Ocular Cicatricial Pemphigoid                       SNOMEDCT
1048   C84940   Oculocerebrorenal Syndrome                          SNOMEDCT
1049   C84941   Oculocutaneous Albinism                             SNOMEDCT
1050   C84942   Oculopharyngeal Muscular Dystrophy
1051   C3288    Oligodendroglioma                                   SNOMEDCT
1051   C3288    Oligodendroglioma                                   SNOMEDCT
1052   C84947   Olivopontocerebellar Atrophy                        SNOMEDCT
1053   C4686    Opsoclonus Myoclonus Syndrome                       SNOMEDCT
1054   C34863   Optic Atrophy                                       ICD10
1054   C34863   Optic Atrophy                                       ICD9CM
1054   C34863   Optic Atrophy                                       ICD9CM
1054   C34863   Optic Atrophy                                       SNOMEDCT
1054   C34863   Optic Atrophy                                       SNOMEDCT
1054   C34863   Optic Atrophy                                       SNOMEDCT
1055   C84950   Optic Neuritis                                      ICD10
1055   C84950   Optic Neuritis                                      ICD9CM
1055   C84950   Optic Neuritis                                      ICD9CM
1055   C84950   Optic Neuritis                                      SNOMEDCT
1055   C84950   Optic Neuritis                                      SNOMEDCT
1055   C84950   Optic Neuritis                                      SNOMEDCT
1056   C4678    Organoid Nevus                                      SNOMEDCT
1056   C4678    Organoid Nevus                                      SNOMEDCT
1057   C84957   Ornithine Carbamoyltransferase Deficiency Disease
1058   C84960   Ornithine Transcarbamylase Deficiency               SNOMEDCT
1059   C75481   Orofaciodigital Syndrome Type 1
1060   C84970   Orthostatic Hypotension                             ICD10
1060   C84970   Orthostatic Hypotension                             ICD9CM
1060   C84970   Orthostatic Hypotension                            SNOMEDCT
1061   C84973   Orthostatic Intolerance
1062   C84975   Ossification of Posterior Longitudinal Ligament    SNOMEDCT
1063   C84978   Osteochondrodysplasia                              ICD10
1063   C84978   Osteochondrodysplasia                              SNOMEDCT
1063   C84978   Osteochondrodysplasia                              SNOMEDCT
1064   C26837   Osteogenesis Imperfecta                            ICD10
1064   C26837   Osteogenesis Imperfecta                            ICD9CM
1064   C26837   Osteogenesis Imperfecta                            SNOMEDCT
1064   C26837   Osteogenesis Imperfecta                            SNOMEDCT
1065   C26838   Osteomalacia                                       ICD9CM
1065   C26838   Osteomalacia                                       SNOMEDCT
1065   C26838   Osteomalacia                                       SNOMEDCT
1066   C84985   Osteopoikilosis                                    ICD9CM
1066   C84985   Osteopoikilosis                                    SNOMEDCT
1067   C9145    Osteosarcoma                                       SNOMEDCT
1068   C84986   Pachyonychia Congenita                             SNOMEDCT
1069   C7073    Paget Disease
1070   C47857   Paget Disease of the Breast                        SNOMEDCT
1071   C35794   Pagetoid Reticulosis                               SNOMEDCT
1071   C35794   Pagetoid Reticulosis                               SNOMEDCT
1071   C35794   Pagetoid Reticulosis                               SNOMEDCT
1072   C84987   Pallister-Hall Syndrome                            SNOMEDCT
1073   C3469    Palmar Fibromatosis                                ICD10
1073   C3469    Palmar Fibromatosis                                ICD9CM
1073   C3469    Palmar Fibromatosis                                SNOMEDCT
1073   C3469    Palmar Fibromatosis                                SNOMEDCT
1073   C3469    Palmar Fibromatosis                                SNOMEDCT
1073   C3469    Palmar Fibromatosis                                SNOMEDCT
1074   C34748   Palmoplantar Keratoderma                           ICD10
1075   C3140    Pancreatic Insulin Producing Tumor                 SNOMEDCT
1075   C3140    Pancreatic Insulin Producing Tumor                 SNOMEDCT
1075   C3140    Pancreatic Insulin Producing Tumor                 SNOMEDCT
1076   C3770    Pancreatic Endocrine Carcinoma                     ICD9CM
1076   C3770    Pancreatic Endocrine Carcinoma                     SNOMEDCT
1076   C3770    Pancreatic Endocrine Carcinoma                     SNOMEDCT
1076   C3770    Pancreatic Endocrine Carcinoma                     SNOMEDCT
1077   C84988   Pantothenate Kinase-Associated Neurodegeneration
1078   C84989   Panuveitis                                         ICD9CM
1078   C84989   Panuveitis                                         SNOMEDCT
1079   C3777    Papillary Cystadenocarcinoma                       SNOMEDCT
1079   C3777    Papillary Cystadenocarcinoma                       SNOMEDCT
1080   C3307    Papilledema                                        ICD10
1080   C3307    Papilledema                                        ICD9CM
1080   C3307    Papilledema                                        ICD9CM
1080   C3307    Papilledema                                        SNOMEDCT
1080   C3307    Papilledema                                        SNOMEDCT
1080   C3307    Papilledema                              SNOMEDCT
1080   C3307    Papilledema                              SNOMEDCT
1081   C84992   Papillon-Lefevre Syndrome                SNOMEDCT
1082   C34891   Paracoccidioidomycosis                   ICD10
1082   C34891   Paracoccidioidomycosis                   ICD10
1082   C34891   Paracoccidioidomycosis                   ICD9CM
1082   C34891   Paracoccidioidomycosis                   SNOMEDCT
1082   C34891   Paracoccidioidomycosis                   SNOMEDCT
1082   C34891   Paracoccidioidomycosis                   SNOMEDCT
1082   C34891   Paracoccidioidomycosis                   SNOMEDCT
1083   C3308    Paraganglioma                            SNOMEDCT
1083   C3308    Paraganglioma                            SNOMEDCT
1083   C3308    Paraganglioma                            SNOMEDCT
1083   C3308    Paraganglioma                            SNOMEDCT
1083   C3308    Paraganglioma                            SNOMEDCT
1083   C3308    Paraganglioma                            SNOMEDCT
1084   C84995   Paragonimiasis                           ICD10
1084   C84995   Paragonimiasis                           ICD9CM
1084   C84995   Paragonimiasis                           SNOMEDCT
1085   C4685    Paraneoplastic Cerebellar Degeneration   SNOMEDCT
1086   C50687   Paraplegia                               ICD10
1086   C50687   Paraplegia                               ICD9CM
1086   C50687   Paraplegia                               SNOMEDCT
1087   C3312    Parapsoriasis                            ICD10
1087   C3312    Parapsoriasis                            ICD10
1087   C3312    Parapsoriasis                            ICD9CM
1087   C3312    Parapsoriasis                            SNOMEDCT
1087   C3312    Parapsoriasis                            SNOMEDCT
1087   C3312    Parapsoriasis                            SNOMEDCT
1088   C26845   Parkinson's Disease                      ICD10
1088   C26845   Parkinson's Disease                      ICD9CM
1088   C26845   Parkinson's Disease                      ICD9CM
1088   C26845   Parkinson's Disease                      SNOMEDCT
1088   C26845   Parkinson's Disease                      SNOMEDCT
1089   C61233   Paroxysmal Nocturnal Hemoglobinuria      ICD10
1089   C61233   Paroxysmal Nocturnal Hemoglobinuria      SNOMEDCT
1090   C34903   Pars Planitis                            ICD10
1090   C34903   Pars Planitis                            ICD9CM
1090   C34903   Pars Planitis                            SNOMEDCT
1090   C34903   Pars Planitis                            SNOMEDCT
1091   C84492   Patent Ductus Arteriosus                 ICD10
1091   C84492   Patent Ductus Arteriosus                 ICD9CM
1091   C84492   Patent Ductus Arteriosus                 SNOMEDCT
1092   C85002   Pelger-Huet Anomaly                      SNOMEDCT
1093   C75487   Pelizaeus-Merzbacher Disease             SNOMEDCT
1094   C85003   Pemphigoid Gestationis                   ICD10
1094   C85003   Pemphigoid Gestationis                   SNOMEDCT
1094   C85003   Pemphigoid Gestationis                  SNOMEDCT
1094   C85003   Pemphigoid Gestationis                  SNOMEDCT
1095   C34909   Pemphigus                               ICD10
1095   C34909   Pemphigus                               ICD10
1095   C34909   Pemphigus                               ICD9CM
1095   C34909   Pemphigus                               SNOMEDCT
1095   C34909   Pemphigus                               SNOMEDCT
1096   C3316    Penile Fibromatosis                     ICD9CM
1096   C3316    Penile Fibromatosis                     SNOMEDCT
1097   C4797    Perineural Cyst                         SNOMEDCT
1098   C85004   Peritoneal Panniculitis
1099   C85005   Peroxisomal Disorder                    ICD9CM
1099   C85005   Peroxisomal Disorder                    SNOMEDCT
1100   C85006   Persistent Fetal Circulation Syndrome   ICD10
1100   C85006   Persistent Fetal Circulation Syndrome   ICD9CM
1100   C85006   Persistent Fetal Circulation Syndrome   SNOMEDCT
1100   C85006   Persistent Fetal Circulation Syndrome   SNOMEDCT
1100   C85006   Persistent Fetal Circulation Syndrome   SNOMEDCT
1101   C34766   Perthes Disease                         ICD10
1101   C34766   Perthes Disease                         ICD10
1101   C34766   Perthes Disease                         SNOMEDCT
1101   C34766   Perthes Disease                         SNOMEDCT
1101   C34766   Perthes Disease                         SNOMEDCT
1102   C3023    Petit Mal Epilepsy                      ICD10
1102   C3023    Petit Mal Epilepsy                      SNOMEDCT
1102   C3023    Petit Mal Epilepsy                      SNOMEDCT
1102   C3023    Petit Mal Epilepsy                      SNOMEDCT
1103   C3324    Peutz-Jeghers Syndrome                  SNOMEDCT
1104   C81315   Phenylketonuria                         ICD10
1104   C81315   Phenylketonuria                         ICD9CM
1104   C81315   Phenylketonuria                         SNOMEDCT
1105   C3326    Adrenal Gland Pheochromocytoma          SNOMEDCT
1105   C3326    Adrenal Gland Pheochromocytoma          SNOMEDCT
1106   C85008   Pick's Disease                          ICD10
1106   C85008   Pick's Disease                          ICD9CM
1106   C85008   Pick's Disease                          SNOMEDCT
1106   C85008   Pick's Disease                          SNOMEDCT
1107   C85009   Piebaldism                              SNOMEDCT
1108   C85010   Pierre Robin Syndrome                   SNOMEDCT
1109   C7368    Pilomatricoma                           SNOMEDCT
1109   C7368    Pilomatricoma                           SNOMEDCT
1110   C3328    Pineal Region Neoplasm
1111   C85011   Pinta                                   ICD10
1111   C85011   Pinta                                   ICD10
1111   C85011   Pinta                                   ICD9CM
1111   C85011   Pinta                                   ICD9CM
1111   C85011   Pinta                                   SNOMEDCT
1111   C85011   Pinta                        SNOMEDCT
1111   C85011   Pinta                        SNOMEDCT
1112   C85012   Piriformis Muscle Syndrome
1113   C85013   Pityriasis Lichenoides       SNOMEDCT
1113   C85013   Pityriasis Lichenoides       SNOMEDCT
1114   C85014   Pityriasis Rubra Pilaris     ICD10
1114   C85014   Pityriasis Rubra Pilaris     ICD9CM
1114   C85014   Pityriasis Rubra Pilaris     SNOMEDCT
1115   C85015   Plague                       ICD10
1115   C85015   Plague                       ICD10
1115   C85015   Plague                       ICD9CM
1115   C85015   Plague                       ICD9CM
1115   C85015   Plague                       SNOMEDCT
1115   C85015   Plague                       SNOMEDCT
1116   C3180    Plasma Cell Leukemia         ICD10
1116   C3180    Plasma Cell Leukemia         ICD9CM
1116   C3180    Plasma Cell Leukemia         SNOMEDCT
1116   C3180    Plasma Cell Leukemia         SNOMEDCT
1116   C3180    Plasma Cell Leukemia         SNOMEDCT
1116   C3180    Plasma Cell Leukemia         SNOMEDCT
1117   C3242    Plasma Cell Myeloma          ICD10
1117   C3242    Plasma Cell Myeloma          ICD9CM
1117   C3242    Plasma Cell Myeloma          SNOMEDCT
1117   C3242    Plasma Cell Myeloma          SNOMEDCT
1118   C9349    Plasmacytoma                 SNOMEDCT
1118   C9349    Plasmacytoma                 SNOMEDCT
1118   C9349    Plasmacytoma                 SNOMEDCT
1118   C9349    Plasmacytoma                 SNOMEDCT
1118   C9349    Plasmacytoma                 SNOMEDCT
1119   C85016   Plummer-Vinson Syndrome      ICD10
1119   C85016   Plummer-Vinson Syndrome      SNOMEDCT
1120   C26861   Pneumoconiosis               ICD10
1120   C26861   Pneumoconiosis               ICD9CM
1120   C26861   Pneumoconiosis               SNOMEDCT
1120   C26861   Pneumoconiosis               SNOMEDCT
1121   C80303   POEMS Syndrome               SNOMEDCT
1122   C85017   Poland Syndrome              SNOMEDCT
1123   C75464   Polycystic Kidney Disease    ICD10
1123   C75464   Polycystic Kidney Disease    ICD9CM
1123   C75464   Polycystic Kidney Disease    SNOMEDCT
1123   C75464   Polycystic Kidney Disease    SNOMEDCT
1124   C3336    Polycythemia Vera            ICD10
1124   C3336    Polycythemia Vera            ICD9CM
1124   C3336    Polycythemia Vera            SNOMEDCT
1124   C3336    Polycythemia Vera            SNOMEDCT
1124   C3336    Polycythemia Vera            SNOMEDCT
1125   C85018   Polymyalgia Rheumatica       ICD10
1125   C85018   Polymyalgia Rheumatica                       ICD9CM
1125   C85018   Polymyalgia Rheumatica                       SNOMEDCT
1126   C26925   Polymyositis                                 ICD10
1126   C26925   Polymyositis                                 ICD9CM
1126   C26925   Polymyositis                                 SNOMEDCT
1127   C34610   Polyostotic Fibrous Dysplasia                ICD10
1127   C34610   Polyostotic Fibrous Dysplasia                ICD9CM
1127   C34610   Polyostotic Fibrous Dysplasia                SNOMEDCT
1128   C85019   Porokeratosis                                SNOMEDCT
1128   C85019   Porokeratosis                                SNOMEDCT
1129   C85020   Postural Orthostatic Tachycardia Syndrome    SNOMEDCT
1130   C75463   Prader-Willi Syndrome                        ICD9CM
1130   C75463   Prader-Willi Syndrome                        SNOMEDCT
1131   C79704   Precocious Puberty                           ICD10
1131   C79704   Precocious Puberty                           SNOMEDCT
1131   C79704   Precocious Puberty                           SNOMEDCT
1132   C85021   Preeclampsia
1133   C34940   Pre-Excitation Syndrome                      ICD10
1133   C34940   Pre-Excitation Syndrome                      SNOMEDCT
1134   C4371    Pregnancy Associated Hypertension            SNOMEDCT
1134   C4371    Pregnancy Associated Hypertension            SNOMEDCT
1134   C4371    Pregnancy Associated Hypertension            SNOMEDCT
1135   C85022   Priapism                                     ICD10
1135   C85022   Priapism                                     ICD9CM
1135   C85022   Priapism                                     SNOMEDCT
1136   C6915    Primary Effusion Lymphoma                    SNOMEDCT
1137   C48280   Primary Hyperparathyroidism                  ICD10
1137   C48280   Primary Hyperparathyroidism                  ICD9CM
1137   C48280   Primary Hyperparathyroidism                  SNOMEDCT
1138   C85023   Primary Hypertrophic Osteoarthropathy        ICD10
1138   C85023   Primary Hypertrophic Osteoarthropathy        SNOMEDCT
1138   C85023   Primary Hypertrophic Osteoarthropathy        SNOMEDCT
1139   C85024   Primary Progressive Aphasia
1140   C85025   Primary Progressive Nonfluent Aphasia
1141   C4828    Primary Sclerosing Cholangitis               SNOMEDCT
1142   C34951   Progeria                                     SNOMEDCT
1142   C34951   Progeria                                     SNOMEDCT
1143   C85026   Progressive Bulbar Palsy                     ICD9CM
1143   C85026   Progressive Bulbar Palsy                     SNOMEDCT
1144   C26815   Progressive Multifocal Leukoencephalopathy   ICD10
1144   C26815   Progressive Multifocal Leukoencephalopathy   ICD9CM
1144   C26815   Progressive Multifocal Leukoencephalopathy   SNOMEDCT
1145   C85027   Progressive Muscular Atrophy                 ICD9CM
1145   C85027   Progressive Muscular Atrophy                 SNOMEDCT
1146   C7636    Progressive Myoclonus Epilepsy               SNOMEDCT
1147   C85028   Progressive Supranuclear Palsy               ICD10
1147   C85028   Progressive Supranuclear Palsy               SNOMEDCT
1148   C85029   Prolidase Deficiency                    SNOMEDCT
1148   C85029   Prolidase Deficiency                    SNOMEDCT
1149   C85030   Propionic Acidemia                      SNOMEDCT
1149   C85030   Propionic Acidemia                      SNOMEDCT
1150   C85031   Prosopagnosia                           SNOMEDCT
1151   C85032   Proteus Syndrome                        SNOMEDCT
1152   C85033   Prune Belly Syndrome                    ICD10
1152   C85033   Prune Belly Syndrome                    ICD9CM
1152   C85033   Prune Belly Syndrome                    SNOMEDCT
1153   C85034   Pseudohypoaldosteronism                 SNOMEDCT
1154   C3345    Pseudomyxoma Peritonei                  SNOMEDCT
1154   C3345    Pseudomyxoma Peritonei                  SNOMEDCT
1155   C85035   Pseudotumor Cerebri                     ICD10
1155   C85035   Pseudotumor Cerebri                     ICD9CM
1155   C85035   Pseudotumor Cerebri                     SNOMEDCT
1156   C85036   Pseudoxanthoma Elasticum                SNOMEDCT
1156   C85036   Pseudoxanthoma Elasticum                SNOMEDCT
1157   C85037   Pulmonary Alveolar Proteinosis          ICD9CM
1157   C85037   Pulmonary Alveolar Proteinosis          SNOMEDCT
1158   C3732    Pulmonary Blastoma                      SNOMEDCT
1159   C26869   Pulmonary Fibrosis                      SNOMEDCT
1160   C3120    Pulmonary Hypertension                  SNOMEDCT
1161   C34997   Pulmonary Sarcoidosis                   ICD10
1161   C34997   Pulmonary Sarcoidosis                   SNOMEDCT
1162   C85039   Pulmonary Veno-Occlusive Disease        SNOMEDCT
1163   C85040   Pyruvate Carboxylase Deficiency         SNOMEDCT
1164   C34970   Q Fever                                 ICD10
1164   C34970   Q Fever                                 ICD10
1164   C34970   Q Fever                                 ICD9CM
1164   C34970   Q Fever                                 ICD9CM
1164   C34970   Q Fever                                 SNOMEDCT
1164   C34970   Q Fever                                 SNOMEDCT
1165   C28182   Rabies                                  ICD10
1165   C28182   Rabies                                  ICD10
1165   C28182   Rabies                                  ICD9CM
1165   C28182   Rabies                                  SNOMEDCT
1165   C28182   Rabies                                  SNOMEDCT
1166   C85041   Reflex Epilepsy                         SNOMEDCT
1167   C85042   Reflex Sympathetic Dystrophy Syndrome   ICD9CM
1167   C85042   Reflex Sympathetic Dystrophy Syndrome   ICD9CM
1167   C85042   Reflex Sympathetic Dystrophy Syndrome   SNOMEDCT
1167   C85042   Reflex Sympathetic Dystrophy Syndrome   SNOMEDCT
1167   C85042   Reflex Sympathetic Dystrophy Syndrome   SNOMEDCT
1168   C85043   Refsum Disease                          ICD10
1168   C85043   Refsum Disease                          ICD9CM
1168   C85043   Refsum Disease                          SNOMEDCT
1169   C9385    Renal Cell Carcinoma                    SNOMEDCT
1169   C9385    Renal Cell Carcinoma                               SNOMEDCT
1170   C3150    Renal Neoplasm                                     SNOMEDCT
1171   C28129   Renal Tubular Acidosis                             SNOMEDCT
1172   C85044   Renovascular Hypertension                          ICD10
1172   C85044   Renovascular Hypertension                          SNOMEDCT
1172   C85044   Renovascular Hypertension                          SNOMEDCT
1173   C84501   Restless Leg Syndrome                              ICD9CM
1173   C84501   Restless Leg Syndrome                              SNOMEDCT
1174   C4800    Retinal Neoplasm                                   SNOMEDCT
1175   C85045   Retinitis Pigmentosa                               SNOMEDCT
1176   C7541    Retinoblastoma                                     SNOMEDCT
1176   C7541    Retinoblastoma                                     SNOMEDCT
1176   C7541    Retinoblastoma                                     SNOMEDCT
1176   C7541    Retinoblastoma                                     SNOMEDCT
1177   C85046   Retinoschisis                                      ICD9CM
1177   C85046   Retinoschisis                                      SNOMEDCT
1177   C85046   Retinoschisis                                      SNOMEDCT
1178   C34982   Retrolental Fibroplasia                            ICD10
1178   C34982   Retrolental Fibroplasia                            ICD9CM
1178   C34982   Retrolental Fibroplasia                            SNOMEDCT
1179   C26876   Retroperitoneal Fibrosis                           SNOMEDCT
1180   C75488   Rett Syndrome                                      ICD10
1180   C75488   Rett Syndrome                                      SNOMEDCT
1181   C34983   Reye Syndrome                                      ICD10
1181   C34983   Reye Syndrome                                      ICD9CM
1181   C34983   Reye Syndrome                                      SNOMEDCT
1182   C34984   Rheumatic Fever                                    SNOMEDCT
1182   C34984   Rheumatic Fever                                    SNOMEDCT
1183   C85047   Rhizomelic Chondrodysplasia Punctata               SNOMEDCT
1184   C85048   Robinow Syndrome                                   SNOMEDCT
1185   C85049   Romano-Ward Syndrome                               SNOMEDCT
1186   C36075   Sinus Histiocytosis with Massive Lymphadenopathy   SNOMEDCT
1186   C36075   Sinus Histiocytosis with Massive Lymphadenopathy   SNOMEDCT
1187   C3335    Rothmund-Thomson Syndrome                          SNOMEDCT
1188   C85051   Rubella                                            ICD10
1188   C85051   Rubella                                            ICD9CM
1188   C85051   Rubella                                            SNOMEDCT
1189   C75466   Rubinstein-Taybi Syndrome                          SNOMEDCT
1190   C85052   Sandhoff Disease                                   SNOMEDCT
1191   C34995   Sarcoidosis                                        ICD10
1191   C34995   Sarcoidosis                                        ICD10
1191   C34995   Sarcoidosis                                        ICD9CM
1191   C34995   Sarcoidosis                                        SNOMEDCT
1192   C9118    Sarcoma                                            SNOMEDCT
1192   C9118    Sarcoma                                            SNOMEDCT
1192   C9118    Sarcoma                                            SNOMEDCT
1192   C9118    Sarcoma                                            SNOMEDCT
1193   C61265   Scheie Syndrome                                             SNOMEDCT
1193   C61265   Scheie Syndrome                                             SNOMEDCT
1194   C35000   Schistosomiasis                                             ICD10
1194   C35000   Schistosomiasis                                             ICD10
1194   C35000   Schistosomiasis                                             ICD9CM
1194   C35000   Schistosomiasis                                             ICD9CM
1194   C35000   Schistosomiasis                                             SNOMEDCT
1194   C35000   Schistosomiasis                                             SNOMEDCT
1194   C35000   Schistosomiasis                                             SNOMEDCT
1194   C35000   Schistosomiasis                                             SNOMEDCT
1195   C85056   Scimitar Syndrome                                           SNOMEDCT
1196   C85057   Scleredema Adultorum                                        SNOMEDCT
1197   C26746   Scleroderma                                                 SNOMEDCT
1197   C26746   Scleroderma                                                 SNOMEDCT
1197   C26746   Scleroderma                                                 SNOMEDCT
1198   C85061   Scleromyxedema                                              SNOMEDCT
1198   C85061   Scleromyxedema                                              SNOMEDCT
1199   C85062   Sea-Blue Histiocyte Syndrome                                SNOMEDCT
1200   C9006    Seborrheic Keratosis                                        ICD10
1200   C9006    Seborrheic Keratosis                                        ICD9CM
1200   C9006    Seborrheic Keratosis                                        SNOMEDCT
1200   C9006    Seborrheic Keratosis                                        SNOMEDCT
1200   C9006    Seborrheic Keratosis                                        SNOMEDCT
1200   C9006    Seborrheic Keratosis                                        SNOMEDCT
1200   C9006    Seborrheic Keratosis                                        SNOMEDCT
1200   C9006    Seborrheic Keratosis                                        SNOMEDCT
1201   C85073   Selective Antibody Deficiency with Normal Immunoglobulins
1202   C9309    Seminoma                                                    SNOMEDCT
1202   C9309    Seminoma                                                    SNOMEDCT
1202   C9309    Seminoma                                                    SNOMEDCT
1203   C85063   Septo-Optic Dysplasia                                       ICD10
1203   C85063   Septo-Optic Dysplasia                                       SNOMEDCT
1204   C85064   Severe Acute Respiratory Syndrome                           ICD9CM
1204   C85064   Severe Acute Respiratory Syndrome                           SNOMEDCT
1205   C3472    Severe Combined Immunodeficiency                            SNOMEDCT
1206   C3794    Sex Cord-Stromal Tumor                                      SNOMEDCT
1206   C3794    Sex Cord-Stromal Tumor                                      SNOMEDCT
1206   C3794    Sex Cord-Stromal Tumor                                      SNOMEDCT
1206   C3794    Sex Cord-Stromal Tumor                                      SNOMEDCT
1206   C3794    Sex Cord-Stromal Tumor                                      SNOMEDCT
1207   C3366    Sezary Syndrome                                             ICD10
1207   C3366    Sezary Syndrome                                             ICD9CM
1207   C3366    Sezary Syndrome                                             SNOMEDCT
1207   C3366    Sezary Syndrome                                             SNOMEDCT
1207   C3366    Sezary Syndrome                                             SNOMEDCT
1207   C3366    Sezary Syndrome                                             SNOMEDCT
1208   C85065   Short Rib-Polydactyly Syndrome                              SNOMEDCT
1209   C85066   Shy-Drager Syndrome                    SNOMEDCT
1210   C85067   Sialic Acid Storage Disease            SNOMEDCT
1211   C26882   Sialadenitis                           ICD10
1211   C26882   Sialadenitis                           ICD9CM
1211   C26882   Sialadenitis                           SNOMEDCT
1211   C26882   Sialadenitis                           SNOMEDCT
1212   C34383   Sickle Cell Disease                    ICD10
1212   C34383   Sickle Cell Disease                    ICD9CM
1212   C34383   Sickle Cell Disease                    ICD9CM
1212   C34383   Sickle Cell Disease                    SNOMEDCT
1212   C34383   Sickle Cell Disease                    SNOMEDCT
1212   C34383   Sickle Cell Disease                    SNOMEDCT
1212   C34383   Sickle Cell Disease                    SNOMEDCT
1213   C85068   Silver-Russell Syndrome                SNOMEDCT
1214   C85069   Sinus Histiocytosis
1215   C26883   Sjogren Syndrome                       ICD10
1215   C26883   Sjogren Syndrome                       SNOMEDCT
1216   C85070   Sjogren-Larsson Syndrome               SNOMEDCT
1217   C34557   Skin Pigmentation Disorder             ICD10
1217   C34557   Skin Pigmentation Disorder             ICD9CM
1217   C34557   Skin Pigmentation Disorder             ICD9CM
1217   C34557   Skin Pigmentation Disorder             SNOMEDCT
1217   C34557   Skin Pigmentation Disorder             SNOMEDCT
1217   C34557   Skin Pigmentation Disorder             SNOMEDCT
1217   C34557   Skin Pigmentation Disorder             SNOMEDCT
1218   C84903   Sly Syndrome                           SNOMEDCT
1218   C84903   Sly Syndrome                           SNOMEDCT
1219   C85071   Smith-Lemli-Opitz Syndrome             SNOMEDCT
1220   C85072   Spasmodic Torticollis                  ICD10
1220   C85072   Spasmodic Torticollis                  ICD9CM
1220   C85072   Spasmodic Torticollis                  SNOMEDCT
1221   C5041    Speech Manifestations
1222   C85074   Spherocytosis                          SNOMEDCT
1223   C85075   Spinal Muscular Atrophy                ICD10
1223   C85075   Spinal Muscular Atrophy                ICD9CM
1223   C85075   Spinal Muscular Atrophy                ICD9CM
1223   C85075   Spinal Muscular Atrophy                SNOMEDCT
1223   C85075   Spinal Muscular Atrophy                SNOMEDCT
1223   C85075   Spinal Muscular Atrophy                SNOMEDCT
1224   C85076   Spinal Muscular Atrophy of Childhood
1225   C82341   Spinocerebellar Ataxia                 SNOMEDCT
1225   C82341   Spinocerebellar Ataxia                 SNOMEDCT
1226   C85077   Staphylococcal Scalded Skin Syndrome   ICD10
1226   C85077   Staphylococcal Scalded Skin Syndrome   ICD9CM
1226   C85077   Staphylococcal Scalded Skin Syndrome   SNOMEDCT
1227   C85078   Stargardt Disease                      SNOMEDCT
1227   C85078   Stargardt Disease                      SNOMEDCT
1228   C85079   Status Epilepticus                               ICD10
1228   C85079   Status Epilepticus                               ICD10
1228   C85079   Status Epilepticus                               SNOMEDCT
1228   C85079   Status Epilepticus                               SNOMEDCT
1228   C85079   Status Epilepticus                               SNOMEDCT
1229   C79484   Stevens-Johnson Syndrome                         ICD10
1229   C79484   Stevens-Johnson Syndrome                         ICD9CM
1229   C79484   Stevens-Johnson Syndrome                         ICD9CM
1229   C79484   Stevens-Johnson Syndrome                         SNOMEDCT
1230   C85170   Stiff Person Syndrome                            ICD9CM
1230   C85170   Stiff Person Syndrome                            SNOMEDCT
1231   C3391    Sturge-Weber Syndrome                            SNOMEDCT
1231   C3391    Sturge-Weber Syndrome                            SNOMEDCT
1232   C85171   Subacute Sclerosing Panencephalitis              ICD10
1232   C85171   Subacute Sclerosing Panencephalitis              ICD9CM
1232   C85171   Subacute Sclerosing Panencephalitis              SNOMEDCT
1232   C85171   Subacute Sclerosing Panencephalitis              SNOMEDCT
1232   C85171   Subacute Sclerosing Panencephalitis              SNOMEDCT
1233   C6918    Subcutaneous Panniculitis-Like T-Cell Lymphoma
1234   C3795    Subependymoma                                    SNOMEDCT
1235   C85172   Subvalvular Aortic Stenosis
1236   C85173   Sudden Infant Death Syndrome                     ICD10
1236   C85173   Sudden Infant Death Syndrome                     ICD9CM
1236   C85173   Sudden Infant Death Syndrome                     SNOMEDCT
1236   C85173   Sudden Infant Death Syndrome                     SNOMEDCT
1236   C85173   Sudden Infant Death Syndrome                     SNOMEDCT
1236   C85173   Sudden Infant Death Syndrome                     SNOMEDCT
1236   C85173   Sudden Infant Death Syndrome                     SNOMEDCT
1237   C85174   SUNCT Syndrome
1238   C85175   Superior Mesenteric Artery Syndrome              SNOMEDCT
1238   C85175   Superior Mesenteric Artery Syndrome              SNOMEDCT
1239   C3396    Superior Vena Cava Syndrome                      SNOMEDCT
1240   C85176   Supravalvular Aortic Stenosis                    SNOMEDCT
1241   C85177   Sweet Syndrome                                   ICD10
1241   C85177   Sweet Syndrome                                   SNOMEDCT
1242   C85178   Swyer James Syndrome                             ICD10
1242   C85178   Swyer James Syndrome                             SNOMEDCT
1243   C35055   Syphilis                                         ICD10
1243   C35055   Syphilis                                         ICD9CM
1243   C35055   Syphilis                                         SNOMEDCT
1243   C35055   Syphilis                                         SNOMEDCT
1243   C35055   Syphilis                                         SNOMEDCT
1244   C85179   Syringomyelia                                    SNOMEDCT
1245   C9235    Systemic Mastocytosis                            SNOMEDCT
1245   C9235    Systemic Mastocytosis                            SNOMEDCT
1246   C72070   Systemic Scleroderma                             ICD10
1246   C72070   Systemic Scleroderma                             ICD10
1246   C72070   Systemic Scleroderma                        ICD10
1246   C72070   Systemic Scleroderma                        ICD9CM
1246   C72070   Systemic Scleroderma                        SNOMEDCT
1246   C72070   Systemic Scleroderma                        ICD10
1246   C72070   Systemic Scleroderma                        ICD10
1246   C72070   Systemic Scleroderma                        ICD10
1246   C72070   Systemic Scleroderma                        ICD9CM
1246   C72070   Systemic Scleroderma                        SNOMEDCT
1246   C72070   Systemic Scleroderma                        ICD10
1246   C72070   Systemic Scleroderma                        ICD10
1246   C72070   Systemic Scleroderma                        ICD10
1246   C72070   Systemic Scleroderma                        ICD9CM
1246   C72070   Systemic Scleroderma                        SNOMEDCT
1247   C35057   Tabes Dorsalis                              ICD9CM
1247   C35057   Tabes Dorsalis                              SNOMEDCT
1247   C35057   Tabes Dorsalis                              SNOMEDCT
1247   C35057   Tabes Dorsalis                              SNOMEDCT
1248   C85180   Taeniasis                                   ICD10
1248   C85180   Taeniasis                                   ICD10
1248   C85180   Taeniasis                                   ICD9CM
1248   C85180   Taeniasis                                   SNOMEDCT
1248   C85180   Taeniasis                                   SNOMEDCT
1248   C85180   Taeniasis                                   SNOMEDCT
1249   C35062   Takayasu Arteritis                          ICD10
1249   C35062   Takayasu Arteritis                          ICD9CM
1249   C35062   Takayasu Arteritis                          SNOMEDCT
1249   C35062   Takayasu Arteritis                          SNOMEDCT
1250   C85181   Takotsubo Cardiomyopathy                    ICD9CM
1251   C85182   Tangier Disease                             SNOMEDCT
1252   C85183   Tarsal Tunnel Syndrome                      ICD10
1252   C85183   Tarsal Tunnel Syndrome                      ICD9CM
1252   C85183   Tarsal Tunnel Syndrome                      SNOMEDCT
1253   C85184   Tay-Sachs Disease                           SNOMEDCT
1254   C4664    T-Cell Large Granular Lymphocyte Leukemia
1255   C35065   Temporal Arteritis                          ICD9CM
1255   C35065   Temporal Arteritis                          SNOMEDCT
1255   C35065   Temporal Arteritis                          SNOMEDCT
1255   C35065   Temporal Arteritis                          SNOMEDCT
1256   C27226   Androgen Insensitivity Syndrome             ICD10
1256   C27226   Androgen Insensitivity Syndrome             ICD9CM
1256   C27226   Androgen Insensitivity Syndrome             ICD9CM
1256   C27226   Androgen Insensitivity Syndrome             SNOMEDCT
1256   C27226   Androgen Insensitivity Syndrome             SNOMEDCT
1257   C3404    Testicular Neoplasm                         SNOMEDCT
1258   C85185   Tetanus                                     ICD9CM
1258   C85185   Tetanus                                     SNOMEDCT
1258   C85185   Tetanus                                     SNOMEDCT
1259   C84505   Tetralogy of Fallot                   ICD10
1259   C84505   Tetralogy of Fallot                   ICD9CM
1259   C84505   Tetralogy of Fallot                   SNOMEDCT
1259   C84505   Tetralogy of Fallot                   SNOMEDCT
1259   C84505   Tetralogy of Fallot                   SNOMEDCT
1260   C85186   Thalamic Disease
1261   C35069   Thalassemia                           ICD10
1261   C35069   Thalassemia                           ICD10
1261   C35069   Thalassemia                           ICD9CM
1261   C35069   Thalassemia                           SNOMEDCT
1261   C35069   Thalassemia                           SNOMEDCT
1261   C35069   Thalassemia                           SNOMEDCT
1262   C34375   Thalassemia Major                     SNOMEDCT
1262   C34375   Thalassemia Major                     SNOMEDCT
1263   C85187   Thanatophoric Dysplasia
1264   C85188   Thoracic Outlet Syndrome              SNOMEDCT
1265   C3408    Thrombocytopenia                      ICD10
1265   C3408    Thrombocytopenia                      ICD9CM
1265   C3408    Thrombocytopenia                      SNOMEDCT
1265   C3408    Thrombocytopenia                      SNOMEDCT
1265   C3408    Thrombocytopenia                      SNOMEDCT
1266   C78797   Thrombotic Thrombocytopenic Purpura   ICD9CM
1266   C78797   Thrombotic Thrombocytopenic Purpura   SNOMEDCT
1267   C85189   Thyroglossal Duct Cyst                SNOMEDCT
1268   C85190   Thyroid Dysgenesis
1269   C85191   Thyroid Hormone Resistance Syndrome   SNOMEDCT
1269   C85191   Thyroid Hormone Resistance Syndrome   SNOMEDCT
1269   C85191   Thyroid Hormone Resistance Syndrome   SNOMEDCT
1269   C85191   Thyroid Hormone Resistance Syndrome   SNOMEDCT
1270   C85192   Togaviridae Infection                 SNOMEDCT
1271   C85193   Tolosa-Hunt Syndrome                  SNOMEDCT
1272   C35078   Tourette Syndrome                     ICD10
1272   C35078   Tourette Syndrome                     ICD9CM
1272   C35078   Tourette Syndrome                     SNOMEDCT
1273   C50780   Bacterial Toxemia
1274   C79777   Toxic Epidermal Necrolysis            ICD10
1274   C79777   Toxic Epidermal Necrolysis            ICD9CM
1274   C79777   Toxic Epidermal Necrolysis            SNOMEDCT
1274   C79777   Toxic Epidermal Necrolysis            SNOMEDCT
1275   C85194   Toxocariasis                          ICD9CM
1275   C85194   Toxocariasis                          SNOMEDCT
1275   C85194   Toxocariasis                          SNOMEDCT
1276   C85195   Tracheobronchomalacia                 SNOMEDCT
1277   C85196   Tracheobronchomegaly                  SNOMEDCT
1278   C35080   Tracheoesophageal Fistula             ICD9CM
1278   C35080   Tracheoesophageal Fistula             SNOMEDCT
1279   C85198   Transient Global Amnesia              ICD10
1279   C85198   Transient Global Amnesia                 ICD9CM
1279   C85198   Transient Global Amnesia                 SNOMEDCT
1280   C75018   Treacher Collins Syndrome                ICD10
1280   C75018   Treacher Collins Syndrome                SNOMEDCT
1281   C85197   Treponemal Infection                     SNOMEDCT
1282   C85199   Trichinosis                              ICD10
1282   C85199   Trichinosis                              ICD9CM
1282   C85199   Trichinosis                              SNOMEDCT
1283   C75118   Trichorhinophalangeal Syndrome Type II   SNOMEDCT
1284   C4924    Trichothiodystrophy                      SNOMEDCT
1285   C85202   Tricuspid Atresia                        SNOMEDCT
1286   C85203   Trigger Finger Disorder                  ICD10
1286   C85203   Trigger Finger Disorder                  ICD9CM
1286   C85203   Trigger Finger Disorder                  SNOMEDCT
1287   C85204   Triploidy Syndrome                       SNOMEDCT
1288   C78651   Trismus                                  SNOMEDCT
1289   C36420   Trisomy 12                               SNOMEDCT
1290   C36626   Trisomy 18                               ICD10
1290   C36626   Trisomy 18                               ICD9CM
1290   C36626   Trisomy 18                               SNOMEDCT
1290   C36626   Trisomy 18                               SNOMEDCT
1291   C36396   Trisomy 8                                SNOMEDCT
1292   C84282   Trisomy 9                                SNOMEDCT
1293   C3422    Trophoblastic Tumor                      SNOMEDCT
1293   C3422    Trophoblastic Tumor                      SNOMEDCT
1293   C3422    Trophoblastic Tumor                      SNOMEDCT
1294   C85207   True Hermaphroditism                     SNOMEDCT
1295   C3423    Tuberculosis                             ICD10
1295   C3423    Tuberculosis                             ICD9CM
1295   C3423    Tuberculosis                             SNOMEDCT
1295   C3423    Tuberculosis                             SNOMEDCT
1295   C3423    Tuberculosis                             SNOMEDCT
1295   C3423    Tuberculosis                             SNOMEDCT
1296   C3424    Tuberous Sclerosis                       ICD10
1296   C3424    Tuberous Sclerosis                       ICD9CM
1296   C3424    Tuberous Sclerosis                       SNOMEDCT
1297   C85208   Tularemia                                ICD10
1297   C85208   Tularemia                                ICD10
1297   C85208   Tularemia                                ICD9CM
1297   C85208   Tularemia                                ICD9CM
1297   C85208   Tularemia                                SNOMEDCT
1297   C85208   Tularemia                                SNOMEDCT
1297   C85208   Tularemia                                SNOMEDCT
1298   C26900   Turner Syndrome                          ICD10
1298   C26900   Turner Syndrome                          ICD10
1298   C26900   Turner Syndrome                          ICD10
1298   C26900   Turner Syndrome                          SNOMEDCT
1298   C26900   Turner Syndrome                                             SNOMEDCT
1299   C34708   Hyperlipoproteinemia Type II
1300   C85215   Uniparental Disomy
1301   C85216   Urachal Cyst                                                SNOMEDCT
1302   C3433    Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis   SNOMEDCT
1303   C85217   Usher Syndrome                                              SNOMEDCT
1304   C85218   Uveomeningoencephalitic Syndrome                            ICD9CM
1304   C85218   Uveomeningoencephalitic Syndrome                            ICD9CM
1304   C85218   Uveomeningoencephalitic Syndrome                            SNOMEDCT
1304   C85218   Uveomeningoencephalitic Syndrome                            SNOMEDCT
1304   C85218   Uveomeningoencephalitic Syndrome                            SNOMEDCT
1305   C3437    Vaginal Neoplasm                                            SNOMEDCT
1306   C66915   Variant Angina                                              ICD9CM
1306   C66915   Variant Angina                                              SNOMEDCT
1307   C85219   Variegate Porphyria                                         SNOMEDCT
1308   C34525   Vascular Dementia                                           ICD10
1308   C34525   Vascular Dementia                                           ICD10
1308   C34525   Vascular Dementia                                           ICD9CM
1308   C34525   Vascular Dementia                                           SNOMEDCT
1308   C34525   Vascular Dementia                                           SNOMEDCT
1308   C34525   Vascular Dementia                                           SNOMEDCT
1309   C26749   VIP Producing Tumor                                         SNOMEDCT
1310   C34758   Visceral Larva Migrans                                      ICD10
1310   C34758   Visceral Larva Migrans                                      ICD10
1311   C85220   Vitamin A Deficiency                                        ICD10
1311   C85220   Vitamin A Deficiency                                        ICD10
1311   C85220   Vitamin A Deficiency                                        ICD9CM
1311   C85220   Vitamin A Deficiency                                        ICD9CM
1311   C85220   Vitamin A Deficiency                                        SNOMEDCT
1311   C85220   Vitamin A Deficiency                                        SNOMEDCT
1312   C85221   Vitamin B6 Deficiency                                       ICD9CM
1312   C85221   Vitamin B6 Deficiency                                       SNOMEDCT
1313   C3105    Von Hippel-Lindau Syndrome                                  SNOMEDCT
1314   C68677   von Willebrand Disease                                      ICD10
1314   C68677   von Willebrand Disease                                      ICD9CM
1314   C68677   von Willebrand Disease                                      SNOMEDCT
1315   C85213   von Willebrand Disease, Type 3                              SNOMEDCT
1316   C85222   Waardenburg Syndrome                                        SNOMEDCT
1317   C80307   Waldenstrom Macroglobulinemia
1318   C85223   Wallerian Degeneration                                      SNOMEDCT
1319   C85224   Wandering Spleen                                            SNOMEDCT
1320   C85225   Waterhouse-Friderichsen Syndrome
1321   C3444    Wegener Granulomatosis                                      ICD10
1321   C3444    Wegener Granulomatosis                                      ICD9CM
1321   C3444    Wegener Granulomatosis                                      SNOMEDCT
1321   C3444    Wegener Granulomatosis                                      SNOMEDCT
1322   C85226   Weill-Marchesani Syndrome                                   SNOMEDCT
1322   C85226   Weill-Marchesani Syndrome                                            SNOMEDCT
1323   C35764   Wernicke-Korsakoff Syndrome                                          SNOMEDCT
1324   C84788   West Syndrome                                                        ICD9CM
1324   C84788   West Syndrome                                                        SNOMEDCT
1324   C84788   West Syndrome                                                        SNOMEDCT
1325   C85227   Western Equine Encephalomyelitis                                     ICD10
1325   C85227   Western Equine Encephalomyelitis                                     ICD9CM
1325   C85227   Western Equine Encephalomyelitis                                     SNOMEDCT
1326   C85228   Whipple Disease                                                      ICD9CM
1326   C85228   Whipple Disease                                                      SNOMEDCT
1327   C85231   Whooping Cough                                                       ICD10
1327   C85231   Whooping Cough                                                       ICD9CM
1327   C85231   Whooping Cough                                                       SNOMEDCT
1328   C85232   Williams Syndrome                                                    SNOMEDCT
1328   C85232   Williams Syndrome                                                    SNOMEDCT
1329   C3267    Wilms Tumor
1330   C3718                                                                         SNOMEDCT
                Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome
1331   C3448    Wiskott-Aldrich Syndrome                                             ICD10
1331   C3448    Wiskott-Aldrich Syndrome                                             ICD9CM
1331   C3448    Wiskott-Aldrich Syndrome                                             SNOMEDCT
1332   C35132   Wolff-Parkinson-White Syndrome                                       SNOMEDCT
1333   C35528   Wolf-Hirschhorn Syndrome
1334   C35133   Wolfram Syndrome                                                     SNOMEDCT
1335   C61271   Wolman Disease                                                       SNOMEDCT
1335   C61271   Wolman Disease                                                       SNOMEDCT
1336   C3452    Xeroderma Pigmentosum                                                ICD10
1336   C3452    Xeroderma Pigmentosum                                                SNOMEDCT
1337   C34503   Xerophthalmia                                                        ICD9CM
1337   C34503   Xerophthalmia                                                        SNOMEDCT
1337   C34503   Xerophthalmia                                                        SNOMEDCT
1338   C85233   X-Linked Bulbar-Muscular Atrophy                                     SNOMEDCT
1339   C85234   X-Linked Dominant Hypophosphatemic Rickets                           SNOMEDCT
1340   C84779   X-Linked Ichthyosis                                                  ICD10
1340   C84779   X-Linked Ichthyosis                                                  SNOMEDCT
1340   C84779   X-Linked Ichthyosis                                                  SNOMEDCT
1340   C84779   X-Linked Ichthyosis                                                  SNOMEDCT
1340   C84779   X-Linked Ichthyosis                                                  ICD10
1340   C84779   X-Linked Ichthyosis                                                  SNOMEDCT
1340   C84779   X-Linked Ichthyosis                                                  SNOMEDCT
1340   C84779   X-Linked Ichthyosis                                                  SNOMEDCT
1341   C4682    X-Linked Severe Combined Immunodeficiency                            SNOMEDCT
1342   C85210   XO Syndrome
1343   C85236   XXXY and XXXXY Syndrome
1344   C85237   XYY Syndrome                                                         ICD10
1344   C85237   XYY Syndrome                                                         SNOMEDCT
1344   C85237   XYY Syndrome                                                         ICD10
1344   C85237   XYY Syndrome                                                         SNOMEDCT
1345   C41353   Yaws                           ICD10
1345   C41353   Yaws                           ICD10
1345   C41353   Yaws                           ICD9CM
1345   C41353   Yaws                           ICD9CM
1345   C41353   Yaws                           SNOMEDCT
1345   C41353   Yaws                           SNOMEDCT
1345   C41353   Yaws                           SNOMEDCT
1346   C35547   Yellow Fever Virus Infection   ICD10
1346   C35547   Yellow Fever Virus Infection   ICD10
1346   C35547   Yellow Fever Virus Infection   ICD9CM
1346   C35547   Yellow Fever Virus Infection   ICD9CM
1346   C35547   Yellow Fever Virus Infection   SNOMEDCT
1346   C35547   Yellow Fever Virus Infection   SNOMEDCT
1346   C35547   Yellow Fever Virus Infection   SNOMEDCT
1347   C85238   Yellow Nail Syndrome           ICD10
1347   C85238   Yellow Nail Syndrome           SNOMEDCT
1347   C85238   Yellow Nail Syndrome           SNOMEDCT
1348   C3011    Yolk Sac Tumor                 SNOMEDCT
1348   C3011    Yolk Sac Tumor                 SNOMEDCT
1349   C85239   Zellweger Syndrome             SNOMEDCT
1350   C3453    Zollinger Ellison Syndrome     SNOMEDCT
1351   C77212   Zygomycosis                    ICD10
1351   C77212   Zygomycosis                    ICD10
1351   C77212   Zygomycosis                    ICD9CM
1351   C77212   Zygomycosis                    SNOMEDCT
1351   C77212   Zygomycosis                    SNOMEDCT
1352   C40413   No evidence of disease
1352   C13188   Amniotic Fluid                 SNOMEDCT
1354   C13192   Bile                           SNOMEDCT
1354   C13192   Bile                           SNOMEDCT
1355   C12431   Bone Marrow                    SNOMEDCT
1355   C12431   Bone Marrow                    SNOMEDCT
1356   C13195   Bronchoalveolar Lavage Fluid   SNOMEDCT
1357   C84507   Buffy Coat                     SNOMEDCT
1357   C84507   Buffy Coat                     SNOMEDCT
1359   C324     cDNA                           SNOMEDCT
1360   C12508   Cell                           SNOMEDCT
1360   C12508   Cell                           SNOMEDCT
1361   C12692   Cerebrospinal Fluid            SNOMEDCT
1362   C84512   Cytoplasmic RNA
1363   C449     DNA                            SNOMEDCT
1364   C13234   Feces                          SNOMEDCT
1365   C13234   Feces                          SNOMEDCT
1366   C77614   Gastric Content                SNOMEDCT
1367   C32705   Hair                           SNOMEDCT
1367   C32705   Hair                           SNOMEDCT
1368   C38068   Lavage                         SNOMEDCT
1368   C38068   Lavage                                      SNOMEDCT
1369   C12529   Leukocyte                                   SNOMEDCT
1370   C36263   Metastatic Malignant Neoplasm
1371   C18124   Microdissection
1372   C13257   Breast Milk                                 SNOMEDCT
1372   C13257   Breast Milk                                 SNOMEDCT
1372   C13257   Breast Milk                                 SNOMEDCT
1373   C33156   Nail                                        SNOMEDCT
1373   C33156   Nail                                        SNOMEDCT
1374   C33256   Pancreatic Exocrine Secretion
1375   C3319    Pericardial Effusion                        SNOMEDCT
1376   C13356   Plasma                                      SNOMEDCT
1376   C13356   Plasma                                      SNOMEDCT
1377   C80376   Poly A RNA
1378   C84509   Primary Malignant Neoplasm                  SNOMEDCT
1378   C84509   Primary Malignant Neoplasm                  SNOMEDCT
1379   C17021   Protein                                     SNOMEDCT
1380   C812     Ribonucleic Acid                            SNOMEDCT
1381   C13275   Saliva                                      SNOMEDCT
1382   C13325   Serum                                       SNOMEDCT
1383   C25325   Slide                                       SNOMEDCT
1384   C815     Small Nuclear RNA
1385   C13278   Sputum                                      SNOMEDCT
1386   C13280   Sweat                                       SNOMEDCT
1387   C33718   Synovial Fluid                              SNOMEDCT
1387   C33718   Synovial Fluid                              SNOMEDCT
1388   C12801   Tissue                                      SNOMEDCT
1389   C12801   Tissue                                      SNOMEDCT
1390   C38046   Unspecified                                 SNOMEDCT
1391   C13283   Urine                                       SNOMEDCT
1392   C13323   Vitreous Humor                              SNOMEDCT
1392   C13323   Vitreous Humor                              SNOMEDCT
1392   C13323   Vitreous Humor                              SNOMEDCT
1393   C41067   Whole Blood                                 SNOMEDCT
1394   C84513   Whole Bone Marrow
1395   C41259   American Indian or Alaska Native            SNOMEDCT
1396   C41260   Asian                                       SNOMEDCT
1397   C16352   Black or African American                   SNOMEDCT
1398   C41261   Caucasian
1398   C41261   Caucasian
1398   C41261   Caucasian
1399   C41219   Native Hawaiian or other Pacific Islander
1400   C17459   Hispanic or Latino
1401   C41222   Not Hispanic or Latino
1402   C43234   Not Stated
1403   C46110   Female                                      SNOMEDCT
1403   C46110   Female                                      SNOMEDCT
1404   C46109   Male
1405   C38046   Unspecified   SNOMEDCT
1406   C17998   Unknown
1411   C17649   Other         SNOMEDCT
Source Code   Source concept name
38888009      Yellow fat
55603005      Adipose tissue
23451007      Adrenal structure
77012006      Amniotic fluid
263939004     Anal
53505006      Anal structure
15825003      Aortic structure
261051005     Aortic
40983000      Upper arm structure
51114001      Arterial structure
32610002      Basal ganglion structure
28273000      Bile duct structure
34707002      Biliary tract structure
89837001      Urinary bladder structure
87612001      Blood
59820001      Blood vessel structure
272673000     Bone structure
14016003      Bone marrow structure
279729006     All bone marrow
12738006      Brain structure
15926001      Brainstem structure
76752008      Breast
955009        Bronchial structure

309312004     Cartilage tissue
61496007      Cartilaginous tissue structure
113305005     Cerebellar structure
65216001      Cerebrospinal fluid
71252005      Cervix uteri structure
263977005     Colonic
71854001      Colon structure
25238003      Cranial nerve structure
263734003     Diaphragmatic
5798000       Diaphragm structure
71710004      Structure of spinal nerve ganglion
117590005     Ear structure
304059001     Endocardial
37949006      Endocardium structure
45709008      Endothelial cell
87644002      Epididymis structure
32849002      Esophageal structure
371398005     Ocular structure
81745001      Eye structure
31435000      Fallopian tube structure
414982008     Oviduct structure of oviparous animal
261078007     Fascial
84820005    Structure of fascia
110577000   Sublingual region structure
36360002    Floor of mouth structure
56459004    Foot structure
28231008    Gallbladder structure
43174007    Gonadal structure
386045008   Hair structure
395508003   Hair - material
80891009    Heart structure
81502006    Hypopharyngeal structure

39352004    Joint structure
32551008    Structure of articular capsule
64033007    Kidney structure
49076000    Knee joint structure
13561001    Lacrimal gland structure
14742008    Large intestinal structure
261115001   Laryngeal
4596009     Laryngeal structure
30021000    Lower leg structure
52501007    Leukocyte
52082005    Structure of ligament
261114002   Labial
48477009    Lip structure
10200004    Liver structure
264164005   Pulmonary
39607008    Lung structure
59441001    Structure of lymph node
255429003   Lymphocytic
56972008    Lymphocyte
17880006    Preputial structure
264099006   Mediastinal
72410000    Mediastinal structure
74135004    Meniscus structure of joint
261130005   Mesenteric
89679009    Mesentery structure
263816006   Muscular
71616004    Muscle
91727004    Muscle tissue
122448007   Cardiac muscle (tissue)
74281007    Myocardium structure
27232003    Myometrial structure
314410003   Nail plate structure
72651009    Nail structure
264105008   Nasopharyngeal
71836000    Nasopharyngeal structure
45048000    Neck structure
3057000     Nerve structure
116712007   Polymorphonuclear leukocyte
260540009   Nasal
45206002    Nasal structure
261142000   Omental
27398004    Omentum structure
74262004    Oral cavity structure
31389004    Oropharyngeal structure
367601008   Fauces structure
15497006    Ovarian structure
15776009    Pancreatic structure
2095001     Nasal sinus structure
55111001    Structure of paranasal sinus cavity
111002      Parathyroid structure
181121007   Parathyroid gland
18911002    Penile structure
24949005    Pericardial sac structure
76848001    Pericardial structure
404798000   Peripheral blood mononuclear cell
84782009    Peripheral nerve structure
15425007    Peritoneum (serous membrane) structure
55940004    Adenoidal structure
54066008    Pharyngeal structure
45793000    Pineal structure
56329008    Pituitary structure
62669004    Placentomes
78067005    Placental structure
419185008   Blood plasma
50863008    Plasma
16378004    Platelet
41216001    Prostatic structure
34402009    Rectum structure
385294005   Salivary gland structure
75535001    Salivary structure
64739004    Seminal vesicle structure
48075008    Structure of integumentary system
264196002   Small intestinal
30315005    Small intestinal structure
2748008     Spinal cord structure
78961009    Splenic structure
69695003    Stomach structure
431898009   Joint fluid
6085005     Synovial fluid
64331004    Synovial membrane structure
13024002    Tendon structure
279572002   Testicular structure
40689003    Testis structure
9875009     Thymus gland structure
69748006    Thyroid structure
21974007    Tongue structure

245543004   Teeth
38199008    Tooth structure
261180004   Tracheal
44567001    Tracheal structure
29870000    Umbilical cord structure
12499000    Cord blood
264254009   Ureteric
87953007    Ureteric structure
13648007    Urethral structure
264255005   Urethral
35039007    Uterine structure
76784001    Vaginal structure
57671007    Vas deferens structure
29092000    Venous structure
66754008    Appendix structure
420345000   Structure of vertebra
51282000    Bone structure of spine
280717001   Spinal structure
421060004   Structure of vertebral column
45292006    Vulval structure
C91.0       Acute lymphoblastic leukaemia
204         Lymphoid leukemia, acute
128822004   Acute lymphocytic leukemia
190034000   [M]Acute lymphoid leukemia
91857003    Acute lymphoid leukemia
C92.0       Acute myeloid leukaemia
205         Myeloid leukemia, acute
17788007    Acute myeloid leukemia
413443009   Acute myeloid leukemia
91861009    Acute myeloid leukemia, disease
189582009   [M]Adenocarcinoma NOS
35917007    Adenocarcinoma

1338007     Basal cell carcinoma
189573003   [M]Basal cell carcinoma NOS
254701007   Basal cell carcinoma of skin
275265005   Epithelioma basal cell
399049001   Rodent ulcer
255108000   Carcinoma of bladder
254838004   Carcinoma of breast
286898006   Carcinoma of breast NOS
254622008   BC - Bronchogenic carcinoma
363493006   CA - Cancer of bronchus
189549006    [M]Carcinoma NOS
68453008     Carcinoma
D09.9        Carcinoma in situ, unspecified
230-234.99   CARCINOMA IN SITU
234.9        Carcinoma in situ, site unspecified
109355002    Carcinoma in situ
189359006    Carcinoma in situ NOS
68956006     Carcinoma in situ
269599004    Ca cervix uteri NOS
285432005    Carcinoma of cervix
363354003    Ca cervix




312104005    Cholangiocarcinoma of biliary tract
70179006     Cholangiocarcinoma
C91.1        Chronic lymphocytic leukaemia
204.1        Lymphoid leukemia, chronic
277473004    B-cell chronic lymphocytic leukemia
51092000     Chronic lymphocytic leukemia
92814006     Chronic lymphoid leukemia, disease
C92.1        Chronic myeloid leukaemia
205.1        Myeloid leukemia, chronic
188735005    Chronic myeloid leukemia NOS
63364005     Chronic myeloid leukemia
92818009     Chronic myeloid leukemia
189813000    [M] Clear cell sarcoma of kidney
24007003     Clear cell sarcoma of kidney

A63.0        Anogenital (venereal) warts
78.11        Condyloma acuminatum
240542006    Condyloma acuminatum
266113007    Genital warts
372138000    Carcinoma of esophagus
76909002     Ewing's sarcoma
276870001    Carcinoma of fallopian tube
372140005    Carcinoma of gallbladder
372143007    Carcinoma of stomach
269506004    [M]Glioblastoma NOS
63634009     Glioblastoma

C22.2        Hepatoblastoma
109843000    Hepatoblastoma (clinical)
45024009     Hepatoblastoma
C22.0        Liver cell carcinoma
109841003    Liver cell carcinoma (clinical)
187769009   Primary carcinoma of liver
25370001    Hepatocellular carcinoma

C81.9       Hodgkin's disease, unspecified
C81         Hodgkin's disease
201         Hodgkin's paragranuloma
201.2       Hodgkin's sarcoma
201.9       Hodgkin's disease, unspecified type
201         Hodgkin's disease
118599009   Hodgkin's disease (clinical)
118605002   Hodgkin's paragranuloma (clinical)
118606001   Hodgkin's sarcoma (clinical)
14537002    Hodgkin lymphoma
188522003   Hodgkin's paragranuloma of unspecified site
188532005   Hodgkin's paragranuloma NOS
188543002   Hodgkin's sarcoma of unspecified site
188552006   Hodgkin's sarcoma NOS
188595005   Hodgkin's disease NOS
188596006   Hodgkin's disease NOS, unspecified site
189991001   [M]Hodgkin's paragranuloma
269509006   [M]Lymphogranuloma, malignant
309831004   [M]Hodgkin's disease NOS
46923007    Hodgkin sarcoma [obs]
70600005    Hodgkin paragranuloma [obs]
C46.9       Kaposi's sarcoma, unspecified
C46         Kaposi's sarcoma
176.9       Kaposi's sarcoma, unspecified
176         Kaposi's sarcoma
109385007   Kaposi's sarcoma (clinical)
190112000   [X]Kaposi's sarcoma, unspecified
49937004    Kaposi's sarcoma
189787000   [M]Leiomyomatous neoplasms
189788005   [M]Leiomyoma NOS
189793008   [M]Leiomyomatous neoplasm NOS
C95.9       Leukaemia, unspecified
C95         Leukaemia of unspecified cell type
208.9       Unspecified leukemia
208         Leukemia of unspecified cell type
188762002   Leukemia of unspecified cell type
188767008   Leukemia NOS
190024009   [M]Leukemias unspecified
190025005   [M]Leukemia NOS
190029004   [M]Leukemia unspecified, NOS
87163000    Leukemia
93143009    Leukemia
189777004   [M]Liposarcoma NOS
254829001   Liposarcoma
49430005    Liposarcoma

109888004   Lobular carcinoma in situ of breast

118600007   Malignant lymphoma (clinical)
188676008   Reticulolymphosarcoma, diffuse
188694002   Malignant lymphoma NOS
188695001   Malignant lymphoma NOS of unspecified site
21964009    Malignant lymphoma
269466003   CA - Bone cancer
428281000   Malignant neoplasm of bone
C71.9       Malignant neoplasm of brain, unspecified
C71         Malignant neoplasm of brain
191.9       Malignant neoplasm of brain, unspecified
191         Malignant neoplasm of brain
188305001   Malignant neoplasm of brain NOS
428061005   Malignant neoplasm of brain
C69.9       Malignant neoplasm of eye, unspecified
190.9       Malignant neoplasm of eye, part unspecified
190         Malignant neoplasm of eye
188278001   Malignant neoplasm of eye NOS
363461003   Malignant neoplasm of eye
C56         Malignant neoplasm of ovary
183         Malignant neoplasm of ovary
363443007   Malignant tumor of ovary
C75.3       Malignant neoplasm of pineal gland
194.4       Malignant neoplasm of pineal gland
363483004   Malignant tumor of pineal gland
C44.9       Malignant neoplasm of skin, unspecified
188143008   Malignant neoplasm of skin NOS
190107001   [X]Malignant neoplasm of skin, unspecified
372130007   Malignant neoplasm of skin
C26.1       Malignant neoplasm of spleen
187823003   Malignant neoplasm of spleen NOS
363499005   Malignant tumor of spleen
C55         Malignant neoplasm of uterus, part unspecified
179         Malignant neoplasm of uterus, part unspecified
188173004   Malignant neoplasm of uterus, part unspecified
371973000   Malignant neoplasm of uterus
2092003     Malignant melanoma
269503007   [M]Malignant melanoma NOS
372244006   Malignant melanoma
C45.9       Mesothelioma, unspecified
C45         Mesothelioma
189837000   [M]Mesothelioma, unspecified
190110008   [X]Mesothelioma, unspecified
62064005    Mesothelioma
277577000   Monoclonal gammopathy of uncertain significance
35601003    Monoclonal gammopathy of undetermined significance
D46.9       Myelodysplastic syndrome, unspecified
D46         Myelodysplastic syndromes
238.75      Myelodysplastic syndrome, unspecified
109995007   Myelodysplastic syndrome (clinical)
128623006   Myelodysplastic syndrome
188736006   Smoldering leukemia
190229005   [X]Myelodysplastic syndrome, unspecified
269507008   [M]Neuroblastoma NOS
432328008   Neuroblastoma
87364003    Neuroblastoma
253000007   Neuroendocrine carcinoma
55937004    Neuroendocrine carcinoma
253001006   Merkel cell carcinoma
254729005   Apudoma of skin
5052009     Merkel cell carcinoma
115240006   Glioma
74532006    Glioma
C83.1       Small cleaved cell (diffuse) non-Hodgkin's lymphoma
C85.9       Non-Hodgkin's lymphoma, unspecified type
118601006   Non-Hodgkin's lymphoma (clinical)
128929007   Non-Hodgkin lymphoma (category)
134176000   [M]Malignant lymphoma, small cleaved cell, diffuse
188675007   Diffuse non-Hodgkin's small cleaved cell (diffuse) lymphoma
1929004     Malignant lymphoma, non-Hodgkin
271385002   [X]Non-Hodgkin's lymphoma, unspecified type

21708004    Osteosarcoma
269556009   Ca pancreas NOS
363418001   CA - Cancer of pancreas
372142002   Carcinoma of pancreas
255037004   Parathyroid carcinoma
126980002   Neoplasm of peripheral nerve
302835009   Pheochromocytoma
85583005    Pheochromocytoma
127024001   Neoplasm of pituitary gland
C90.1       Plasma cell leukaemia
203.1       Plasma cell leukemia
128922003   Plasma cell leukemia
190038002   [M]Plasma cell leukemias
190039005   [M]Plasma cell leukemia NOS
95210003    Plasma cell leukemia
C90.0       Multiple myeloma
203         Multiple myeloma
109989006   Multiple myeloma
55921005    Multiple myeloma
C90.0       Multiple myeloma
203         Multiple myeloma
109989006   Multiple myeloma
55921005    Multiple myeloma
10639003    Plasmacytoma
190016004   [M]Plasma cell tumors
190019006   [M]Plasma cell tumor NOS
308122007   Plasmacytoma NOS
415112005   Plasmacytoma
C83.5       Lymphoblastic (diffuse) non-Hodgkin's lymphoma
109965004   Diffuse non-Hodgkin's lymphoma, lymphoblastic (clinical)
128806000   Precursor cell lymphoblastic lymphoma
188675007   Lymphoblastic lymphosarcoma
189972001   [M]Lymphoblastic lymphoma NOS
126906006   Neoplasm of prostate
126880001   Neoplasm of kidney

189764008   [M]Sarcoma NOS
2424003     Sarcoma
424413001   Sarcoma
424952003   Sarcoma of soft tissue

413587002   Smoldering myeloma
189566008   [M]Squamous cell carcinoma NOS
28899001    Squamous cell carcinoma
402815007   Squamous cell carcinoma
128752000   Stromal tumor
363478007   Thyroid Ca

254893005   Carcinoma of vagina
363367000   Cancer of vulva

J80         Adult respiratory distress syndrome
67782005    Adult respiratory distress syndrome
95437004    Non-cardiogenic pulmonary edema
273.4       Alpha-1-antitrypsin deficiency
30188007    Alpha-1-antitrypsin deficiency
D64.9       Anaemia, unspecified
285.9       Anemia, unspecified
267531008   Anemia unspecified
271737000   Anemia
I72.9       Aneurysm of unspecified site
442.9       Aneurysm of unspecified site
195292009   Aneurysm NOS
432119003   Aneurysm
85659009    Aneurysm
26843008    Antiphospholipid syndrome
D61.9       Aplastic anaemia, unspecified
284.9       Aplastic anemia, unspecified
191258001   Aplastic anemia NOS
304132006   Hematopoietic aplasia
306058006   Aplastic anemia
I49.9       Cardiac arrhythmia, unspecified
427.9       Cardiac dysrhythmia, unspecified
427         Cardiac dysrhythmias
195107004   Cardiac dysrhythmia NOS
44808001    Disorder of heart rhythm

J45.9       Asthma, unspecified
J45         Asthma
493.9       Asthma, unspecified
493         Asthma
195967001   Asthma
195979001   Asthma unspecified
266365004   Asthma NOS
I70         Atherosclerosis
440         Atherosclerosis
38716007    Atherosclerosis
427.31      Atrial fibrillation
49436004    Atrial fibrillation
Q21.1       Atrial septal defect
253366007   Interauricular septal defect
253368008   Auricular septal defect NOS
268178001   Atrial septal defect NOS
405752007   Congenital atrial septal defect
70142008    Atrial septal defect
J47         Bronchiectasis
494         Bronchiectasis
12295008    Bronchiectasis
195986009   Bronchiectasis NOS
J40         Bronchitis, not specified as acute or chronic
490         Bronchitis, not specified as acute or chronic
195940007   Bronchitis NOS
266354009   Bronchitis unspecified
32398004    Bronchitis
I46.9       Cardiac arrest, unspecified
I46         Cardiac arrest
427.5       Cardiac arrest
309810002   Cardiac arrest, unspecified
397829000   Asystole
410429000   Cardiac arrest
R57.0       Cardiogenic shock
785.51      Cardiogenic shock
207027002   [D]Cardiogenic shock
89138009    Cardiogenic shock
I42.9       Cardiomyopathy, unspecified
I42         Cardiomyopathy
425         Cardiomyopathy
195037005   Cardiomyopathy NOS
85898001    Cardiomyopathy
371160000   Disorder of carotid artery
J44.9       Chronic obstructive pulmonary disease, unspecified
13645005    Chronic obstructive lung disease
196003006   Chronic obstructive airways disease NOS
413846005   Chronic obstructive pulmonary disease finding

Q21.9       Congenital malformation of cardiac septum, unspecified
Q21         Congenital malformations of cardiac septa
253273004   Cardiac septal defects
287081002   Septal defect NOS
396351009   Congenital septal defect
59494005    Congenital septal defect of heart
53741008    Coronary heart disease

R05         Cough
786.2       Cough
161935000   Cough symptom NOS
207066005   [D]Cough
263731006   Coughing
272039006   C/O - cough
49727002    Cough
E84.9       Cystic fibrosis, unspecified
E84         Cystic fibrosis
277         Cystic fibrosis
190905008   Cystic fibrosis
190911006   Cystic fibrosis NOS
128053003   Deep venous thrombosis
56819008    Endocarditis

30575002    Fanconi's anemia
233916004   Heart block
266303009   Heart block NOS
I50.9       Heart failure, unspecified
I50         Heart failure
428.9       Heart failure, unspecified
428         Heart failure
266248006   Heart failure NOS
84114007    Heart failure
R01.1       Cardiac murmur, unspecified
274249001   [D]Heart murmur
288315006   [D]Heart murmur NOS
414786004    Murmur
421493004    Heart murmur
88610006     Heart murmur
399126000    Bronze cirrhosis
399144008    Bronze diabetes
399187006    Hemochromatosis
D55-D59.9    Haemolytic anaemias
191231008    Hemolytic anemias NOS
191416001    [X]Hemolytic anemias
61261009     Hemolytic anemia
90935002     Hemophilia
13644009     Hypercholesterolemia
I10-I15.9    Hypertensive diseases
401-405.99   HYPERTENSIVE DISEASE
997.91       Hypertension
194794002    Hypertensive disease NOS
195537001    [X]Hypertensive diseases
38341003     Hypertensive disorder
I95.9        Hypotension, unspecified
I95          Hypotension
458.9        Hypotension, unspecified
458          Hypotension
195508000    Hypotension NOS
45007003     Low blood pressure
516.3        Idiopathic fibrosing alveolitis
236302005    Hamman Rich syndrome
28168000     Idiopathic fibrosing alveolitis, chronic form
45157009     Idiopathic interstitial pneumonia
D69.3        Idiopathic thrombocytopenic purpura
13172003     Werlhof's disease
32273002     Idiopathic thrombocytopenic purpura
780.52       Insomnia, unspecified
193462001    Insomnia
206746001    [D]Insomnia - symptom
206749008    [D]Insomnia NOS
230484002    Insomnia NOS
274233003    [D]Insomnia
D50.9        Iron deficiency anaemia, unspecified
D50          Iron deficiency anaemia
280.9        Iron deficiency anemia, unspecified
280          Iron deficiency anemias
191133000    Unspecified iron deficiency anemia
191137004    Iron deficiency anemia NOS
87522002     Iron deficiency anemia
M30.3        Mucocutaneous lymph node syndrome [Kawasaki]
446.1        Acute febrile mucocutaneous lymph node syndrome [MCLS]
195349001    Acute febrile mucocutaneous lymph node syndrome NOS
75053002    Acute febrile mucocutaneous lymph node syndrome
426.82      Long QT syndrome
9651007     Long QT syndrome
288.51      Lymphocytopenia
48813009    Lymphocytopenia
Q87.4       Marfan's syndrome
759.82      Marfan's syndrome
19346006    Marfan's syndrome
277.7       Dysmetabolic syndrome X
237602007   Metabolic syndrome X
I34.1       Mitral (valve) prolapse
409712001   Mitral valve prolapse
42069006    Floppy mitral valve
8074002     J.B. Barlow's syndrome
22298006    Myocardial infarction
347         Narcolepsy
60380001    Narcolepsy
E66.0       Obesity due to excess calories
E66.9       Obesity, unspecified
E66         Obesity
278         Obesity, unspecified
308124008   Simple obesity NOS
414915002   Obese
414916001   Obesity
415530009   Simple obesity
R00.2       Palpitations
785.1       Palpitations
161970003   Palpitations NOS
207004005   [D]Palpitations
207006007   [D]Palpitations NOS
80313002    Palpitations
Q25.0       Patent ductus arteriosus
747         Patent ductus arteriosus
83330001    Patent ductus arteriosus
3238004     Pericarditis
399957001   Peripheral arterial disease
281         Pernicious anemia
84027009    Pernicious anemia
D45         Polycythaemia vera
238.4       Polycythemia vera
109992005   Polycythemia vera (clinical)
128841001   Polycythemia vera
134182002   [M]Polycythemia vera
I26         Pulmonary embolism
59282003    Pulmonary embolism
70995007    Pulmonary hypertension
I73.0       Raynaud's syndrome
443         Raynaud's syndrome
195295006   Raynaud's disease
195297003   Raynaud's syndrome NOS

333.94      Restless legs syndrome (RLS)
32914008    Restless legs

D86.9       Sarcoidosis, unspecified
D86         Sarcoidosis
135         Sarcoidosis
31541009    Sarcoidosis
D57         Sickle-cell disorders
282.6       Sickle-cell disease, unspecified
282.6       Sickle-cell disease
127040003   Hb SS disease
191195005   Sickle cell anemia of unspecified type
191199004   Sickle cell anemia NOS
417357006   Sickling disorder due to hemoglobin S
G47.3       Sleep apnoea
780.57      Unspecified sleep apnea
313246000   [D]Sleep apnea syndrome
73430006    Sleep apnea

Q21.3       Tetralogy of Fallot
745.2       Tetralogy of Fallot
204307003   Tetralogy of Fallot NOS
268177006   Tetralogy of Fallot, unspecified
86299006    Tetralogy of Fallot
D56.9       Thalassaemia, unspecified
D56         Thalassaemia
282.4       Thalassemias
267521001   Thalassemia NOS
40108008    Thalassemia
84188003    Thalassemia syndrome
D69.6       Thrombocytopenia, unspecified
287.5       Thrombocytopenia, unspecified
191326009   Thrombocytopenia NOS
302215000   Thrombocytopenic disorder
415116008   Platelet count below reference range
446.6       Thrombotic microangiopathy
78129009    Thrombotic thrombocytopenic purpura

128060009   Venous varices
12856003    Varix
266331000   Varicose veins NOS
276504003   Varices
399989005   Phlebectasia
31996006    Vasculitis
Q21.0       Ventricular septal defect
745.4       Ventricular septal defect
204309000   Ventricular septal defect, unspecified
204314001   Ventricular septal defect NOS
30288003    Ventricular septal defect
D68.0       Von Willebrand's disease
286.4       von Willebrand's disease
128105004   von Willebrand disorder
197270009   Acute hepatic failure
235884008   Fulminant hepatic failure
N17.9       Acute renal failure, unspecified
N17         Acute renal failure
584.9       Acute renal failure, unspecified
584         Acute renal failure
14669001    Acute renal failure syndrome
197653006   Acute renal failure NOS
31742004    Arteriohepatic dysplasia
K70.9       Alcoholic liver disease, unspecified
K70         Alcoholic liver disease
571.3       Alcoholic liver damage, unspecified
197282000   Alcoholic liver damage unspecified
266538005   Alcoholic liver damage NOS
41309000    Alcoholic liver damage
273.4       Alpha-1-antitrypsin deficiency
30188007    Alpha-1-antitrypsin deficiency

530.85      Barrett's esophagus
196609006   Barrett's ulcer of esophagus
235597001   Barrett's esophagus with esophagitis
302914006   Barrett's esophagus
266569009   Benign prostatic hyperplasia
31155007    Benign recurrent intrahepatic cholestasis

Q44.2       Atresia of bile ducts
751.61      Biliary atresia, congenital
204783004   Biliary atresia NOS
77480004    Congenital biliary atresia
K83.9       Disease of biliary tract, unspecified
576.9       Unspecified disorder of biliary tract
105997008   Disorder of biliary tract
266544009   Biliary tract disorders NOS
N32.9       Bladder disorder, unspecified
596.9       Unspecified disorder of bladder
197897007   Bladder disorders NOS
42643001    Disorder of bladder
I51.6       Cardiovascular disease, unspecified
429.2       Cardiovascular disease, unspecified
105980002   Disease affecting entire cardiovascular system
195594006   [X]Cardiovascular disease, unspecified
49601007    Disorder of cardiovascular system



236425005   Chronic renal impairment
90688005    Chronic uremia
N18.9       Chronic renal failure, unspecified
N18         Chronic renal failure
585.6       END STAGE RENAL DISEASE
46177005    End stage chronic renal failure
90688005    Chronic renal failure syndrome
19943007    Cirrhosis of liver
235891006   Cirrhosis of liver NOS
53741008    Coronary heart disease
K50.9       Crohn's disease, unspecified
K50         Crohn's disease [regional enteritis]
196984001   Crohn's disease NOS
34000006    Crohn's disease
89580002    Cryptogenic cirrhosis
E14.8       Unspecified diabetes mellitus with unspecified complications
250.9       Diabetes with unspecified complication
190422004   Diabetes mellitus with unspecified complication
190426001   Diabetes mellitus NOS with unspecified complication
74627003    Diabetic complication
E10-E14.9   Diabetes mellitus
E14         Unspecified diabetes mellitus
250         Diabetes mellitus
73211009    Diabetes mellitus
E14.3       Unspecified diabetes mellitus with ophthalmic complications
250.5       Diabetes with ophthalmic manifestations
190348006   Diabetes mellitus NOS with ophthalmic manifestation
25093002    Diabetic oculopathy
250.4       Diabetes with renal manifestations
127013003   Diabetic renal disease
197605007   Nephrotic syndrome in diabetes mellitus
54181000    Diabetes-nephrosis syndrome
250.4       Diabetes with renal manifestations
127013003   Diabetic renal disease
197605007   Nephrotic syndrome in diabetes mellitus
54181000    Diabetes-nephrosis syndrome



372138000   Carcinoma of esophagus
H44.9       Disorder of globe, unspecified
H44         Disorders of globe
360.9        Unspecified disorder of globe
360          Disorders of the globe
379.9        Disorder of eye, unspecified
193316008    Disorders of globe NOS
194183009    Unspecified disorder of eye
371405004    Disorder of eye
371409005    Disorder of eye
236403004    Focal segmental glomerulosclerosis
25821008     Focal glomerular sclerosis
536.3        Gastroparesis
196753007    Gastric atonia
235675006    Gastroparesis syndrome
197648001    Unspecified glomerulonephritis NOS
36171008     Glomerulonephritis
I51.9        Heart disease, unspecified
429.9        Heart disease, unspecified
195152001    Heart disease NOS
56265001     Heart disease
K70-K77.9    Diseases of liver
K76.9        Liver disease, unspecified
573.9        Unspecified disorder of liver
197375001    Liver disorder NOS
197551000    [X]Diseases of the liver
235856003    Disease of liver
66071002     Type B viral hepatitis
186634008    Hepatitis non-A non-B
50711007     Viral hepatitis C
C22.0        Liver cell carcinoma
109841003    Liver cell carcinoma (clinical)
187769009    Primary carcinoma of liver
25370001     Hepatocellular carcinoma
I10-I15.9    Hypertensive diseases
401-405.99   HYPERTENSIVE DISEASE
997.91       Hypertension
194794002    Hypertensive disease NOS
195537001    [X]Hypertensive diseases
38341003     Hypertensive disorder
23583003     Inflammation
257552002    Inflammation
E10          Insulin-dependent diabetes mellitus
46635009     Diabetes mellitus type 1
E10          Insulin-dependent diabetes mellitus
46635009     Diabetes mellitus type 1
N30.1        Interstitial cystitis (chronic)
595.1        Chronic interstitial cystitis
197834003    Chronic interstitial cystitis
197838000    Chronic interstitial cystitis NOS
K58         Irritable bowel syndrome
564.1       Irritable bowel syndrome
10743008    Irritable colon

277.7       Dysmetabolic syndrome X
237602007   Metabolic syndrome X

69800000    Neonatal hepatitis
90708001    Nephrosis



E11         Non-insulin-dependent diabetes mellitus
44054006    Diabetes mellitus type 2
E11         Non-insulin-dependent diabetes mellitus
44054006    Diabetes mellitus type 2
E66.0       Obesity due to excess calories
E66.9       Obesity, unspecified
E66         Obesity
278         Obesity, unspecified
308124008   Simple obesity NOS
414915002   Obese
414916001   Obesity
415530009   Simple obesity

Q61.3       Polycystic kidney, unspecified
753.12      Polycystic kidney, unspecified type
268233005   Polycystic kidney disease NOS
82525005    PCK - Polycystic kidney disease
K74.3       Primary biliary cirrhosis
1761006     Chronic nonsuppurative destructive cholangitis
31712002    Primary biliary cirrhosis
197441003   Primary sclerosing cholangitis

362.02      Proliferative diabetic retinopathy
59276001    Proliferative diabetic retinopathy
N42.9       Disorder of prostate, unspecified
602.9       Unspecified disorder of prostate
197979000   Prostatic disorders NOS
30281009    Disorder of prostate
274108006   Kidney disease NOS
90708001    Kidney disease
399625000   Retinopathy
K51.9       Ulcerative colitis, unspecified
K51         Ulcerative colitis
556.9       Ulcerative colitis, unspecified
556         Ulcerative colitis
64766004    Ulcerative colitis
N39.9        Disorder of urinary system, unspecified
599.9        Unspecified disorder of urethra and urinary tract
128606002    Disorder of the urinary system
197951006    Disorder of urinary system, unspecified
307415006    Kidney/urinary disease NOS
41368006     Disorder of urinary tract
N39.0        Urinary tract infection, site not specified
599          Urinary tract infection, site not specified
V13.02       Urinary (tract) infection
197930008    Urinary tract infection, site not specified NOS
274110008    Urinary infection NOS
68566005     Urinary tract infectious disease

27550009     Vascular disorder
593.7        Vesicoureteral reflux
197811007    Vesicoureteric reflux
85756007     Body tissue structure
107671003    Vascular sclerosis
195257001    Arteriosclerotic vascular disease NOS
28960008     Arteriosclerosis
72092001     Arteriosclerotic vascular disease
M13.9        Arthritis, unspecified
3723001      Arthritis
J45.9        Asthma, unspecified
J45          Asthma
493.9        Asthma, unspecified
493          Asthma
195967001    Asthma
195979001    Asthma unspecified
266365004    Asthma NOS
530.85       Barrett's esophagus
196609006    Barrett's ulcer of esophagus
235597001    Barrett's esophagus with esophagitis
302914006    Barrett's esophagus
D10-D36.9    Benign neoplasms
D36.9        Benign neoplasm of unspecified site
210-229.99   BENIGN NEOPLASMS
229.9        Benign neoplasm of unspecified site
189207002    Benign neoplasm NOS
190189000    [X]Benign neoplasms
20376005     Benign neoplastic disease
3898006      Neoplasm, benign
L12.0        Bullous pemphigoid
L12.9        Pemphigoid, unspecified
L12          Pemphigoid
694.5        Pemphigoid
200912002    Pemphigoid NOS
77090002    Bullous pemphigoid
86142006    Pemphigoid
I51.6       Cardiovascular disease, unspecified
429.2       Cardiovascular disease, unspecified
105980002   Disease affecting entire cardiovascular system
195594006   [X]Cardiovascular disease, unspecified
49601007    Disorder of cardiovascular system
H26.9       Cataract, unspecified
366.9       Unspecified cataract
366         Cataract
128306009   Cataract
193570009   Cataract
193623003   Cataract NOS
247053007   Cataract form
128188000   Cerebral palsy
I64         Stroke, not specified as haemorrhage or infarction
230690007   Cerebrovascular accident
270883006   Stroke and cerebrovascular accident unspecified
313267000   Stroke NOS
236425005   Chronic renal impairment
90688005    Chronic uremia
J44.9       Chronic obstructive pulmonary disease, unspecified
13645005    Chronic obstructive lung disease
196003006   Chronic obstructive airways disease NOS
413846005   Chronic obstructive pulmonary disease finding
19943007    Cirrhosis of liver
235891006   Cirrhosis of liver NOS
I50.0       Congestive heart failure
428         Congestive heart failure, unspecified
42343007    Congestive heart failure
53741008    Coronary heart disease
K50.9       Crohn's disease, unspecified
K50         Crohn's disease [regional enteritis]
196984001   Crohn's disease NOS
34000006    Crohn's disease
E24.9       Cushing's syndrome, unspecified
E24         Cushing's syndrome
255         Cushing's syndrome
190505004   Cushing's syndrome NOS
47270006    Cushing's syndrome III
F03         Unspecified dementia
290         Dementias
268675002   [X]Unspecified dementia
52448006    Dementia
307537002   Depression NOS
L30.9       Dermatitis, unspecified
182782007   Dermatitis
200884006   Dermatitis NOS
267856007   Skin inflammation NOS
43116000    Dermatitis
E10-E14.9   Diabetes mellitus
E14         Unspecified diabetes mellitus
250         Diabetes mellitus
73211009    Diabetes mellitus

18126004    Diverticulitis
197102009   Diverticulitis unspecified
197103004   Diverticulitis NOS
307496006   Diverticulitis
83130006    Eisenmenger's defect
J43.9       Emphysema, unspecified
J43         Emphysema
492         Emphysema
87433001    Pulmonary emphysema
N80.9       Endometriosis, unspecified
N80         Endometriosis
617.9       Endometriosis, site unspecified
617         Endometriosis
129103003   Endometriosis (clinical)
198259004   Endometriosis NOS
396224008   Endometriosis
280816001   Facial palsy
46382007    Seventh nerve paralysis
H40-H42.9   Glaucoma
H40.9       Glaucoma, unspecified
H40         Glaucoma
365.9       Unspecified glaucoma
365         Glaucoma
193569008   Glaucoma NOS
23986001    Glaucoma
240.9       Goiter, unspecified
246183006   Form of goiter
267370001   Goiter NOS
3716002     Goiter
K75.9       Inflammatory liver disease, unspecified
573.3       Hepatitis, unspecified
128241005   Inflammatory disease of liver
197351001   Hepatitis unspecified
197353003   Hepatitis unspecified NOS
40468003    Viral hepatitis, type A
66071002    Type B viral hepatitis
186634008   Hepatitis non-A non-B
50711007    Viral hepatitis C
76197007    Hyperplasia
I10-I15.9    Hypertensive diseases
401-405.99   HYPERTENSIVE DISEASE
997.91       Hypertension
194794002    Hypertensive disease NOS
195537001    [X]Hypertensive diseases
38341003     Hypertensive disorder
E10          Insulin-dependent diabetes mellitus
46635009     Diabetes mellitus type 1
K58          Irritable bowel syndrome
564.1        Irritable bowel syndrome
10743008     Irritable colon
189787000    [M]Leiomyomatous neoplasms
189788005    [M]Leiomyoma NOS
189793008    [M]Leiomyomatous neoplasm NOS
214.9        Lipoma, unspecified site
214          Lipoma
189018005    Lipoma NOS
189776008    [M]Lipoma NOS
46720004     Lipoma
93163002     Lipoma (clinical)
L93          Lupus erythematosus
695.4        Lupus erythematosus
200936003    Lupus erythematosus
200944003    Lupus erythematosus NOS
362.5        Macular degeneration (senile) of retina, unspecified
267718000    Age related macular degeneration
F70-F79.9    Mental retardation
F79          Unspecified mental retardation
317-319.99   MENTAL RETARDATION
319          Unspecified mental retardation
192157003    Mental retardation NOS
268732001    [X]Unspecified mental retardation
91138005     Mental retardation

G58.7        Mononeuritis multiplex
354.5        Mononeuritis multiplex
30292005     Mononeuritis multiplex
G35          Multiple sclerosis
340          Multiple sclerosis
192928003    Generalized multiple sclerosis
192930001    Multiple sclerosis NOS
24700007     Multiple sclerosis
E11          Non-insulin-dependent diabetes mellitus
44054006     Diabetes mellitus type 2
E66.0        Obesity due to excess calories
E66.9        Obesity, unspecified
E66          Obesity
278         Obesity, unspecified
308124008   Simple obesity NOS
414915002   Obese
414916001   Obesity
415530009   Simple obesity
715.9       Osteoarthrosis, unspecified whether generalized or localized
201887006   Osteoarthritis NOS, of unspecified site
225655006   Degenerative polyarthritis
267893001   Osteoarthritis NOS
396275006   Osteoarthritis
M81.9       Osteoporosis, unspecified
733         Osteoporosis, unspecified
733         Osteoporosis
203428004   Osteoporosis, unspecified
203440004   Osteoporosis NOS
64859006    Osteoporosis
75694006    Pancreatitis
95662005    Sensory neuropathy
197441003   Primary sclerosing cholangitis
N41.9       Inflammatory disease of prostate, unspecified
N41         Inflammatory diseases of prostate
601.9       Prostatitis, unspecified
601         Inflammatory diseases of prostate
197971002   Prostatitis NOS
9713002     Prostatitis
L40.9       Psoriasis, unspecified
L40         Psoriasis
200961000   Psoriasis unspecified
200978009   Psoriasis NOS
9014002     Psoriasis
51615001    Fibrosis of lung
N17-N19.9   Renal failure
N19         Unspecified renal failure
586         Renal failure, unspecified
266553002   Renal failure unspecified
42399005    Renal failure syndrome
399625000   Retinopathy
M06.9       Rheumatoid arthritis, unspecified
714         Rheumatoid arthritis
287010008   Rheumatoid arthritis NOS
69896004    Rheumatoid arthritis
F20.9       Schizophrenia, unspecified
F20         Schizophrenia
295.9       Unspecified schizophrenia, unspecified state
295.9       Unspecified schizophrenia
295         Schizophrenic disorders
191526005   Schizophrenic disorders
191528006   Unspecified schizophrenia
191579000   Schizophrenia NOS
192327003   [X]Schizophrenia, unspecified
58214004    Schizophrenia

K51.9       Ulcerative colitis, unspecified
K51         Ulcerative colitis
556.9       Ulcerative colitis, unspecified
556         Ulcerative colitis
64766004    Ulcerative colitis

398624005   Ethyl alcohol
419442005   Ethyl alcohol

346370000   Citrate product
59351004    Citrate

350076000   Edetic acid
372628006   Edetic acid
69519002    EDTA



111095003   Formaldehyde
332436004   Formaldehyde product



372877000   Heparin
84812008    Heparin




233985008   Abdominal aortic aneurysm
H49.2       Sixth [abducent] nerve palsy
378.54      Sixth or abducens nerve palsy
398760006   Abducens nerve palsy
398925009   Abducens nerve disorder
398963001   Abducens nerve weakness
190787008   Abetalipoproteinemia
60193003    Familial hypobetalipoproteinemia

L83         Acanthosis nigricans
402599005   Acanthosis nigricans
72129000    AN - Acanthosis nigricans
111393000   Acatalasia
124202004   Deficiency of catalase
267454002   Acatalasemia
111393000   Acatalasia
124202004   Deficiency of catalase
267454002   Acatalasemia
Q77.0       Achondrogenesis
2391001     Achondrogenesis
Q77.4       Achondroplasia
86268005    Achondroplasia
368.54      Achromatopsia
56852002    Achromatopsia
45410002    Acinar cell carcinoma
126949007   Acoustic neuroma
60684003    SAPHO syndrome

755.55      Acrocephalosyndactyly
205258009   Acrocephalosyndactyly (Apert)
268262006   Acrocephalosyndactyly
63661009    Acrocephalosyndactyly, type I
8197001     Acrodermatitis
74107003    Acromegaly

A42.9       Actinomycosis, unspecified
A42         Actinomycosis
39.9        Actinomycotic infection of unspecified site
39          Actinomycotic infections
11817007    Actinomycotic infection
186402009   Actinomycosis unspecified site
186405006   Actinomycosis unspecified site NOS
187335006   [X]Actinomycosis, unspecified
G04.0       Acute disseminated encephalitis
83942000    Acute disseminated encephalomyelitis
72986009    Acute hemorrhagic leukoencephalitis
G61.0       Guillain-Barre syndrome
357         Acute infective polyneuritis
128085000   Infectious neuronitis
129131007   Acute infective polyneuritis
193174005   Post-infectious polyneuritis
193176007   Acute infective polyneuritis NOS
40956001    Guillain-Barre syndrome
234422006   Acute intermittent porphyria
234422006   Acute intermittent porphyria
C94.2       Acute megakaryoblastic leukaemia
207.2       Megakaryocytic leukemia
188754005   Megakaryocytic leukemia
190067001   [M]Acute megakaryoblastic leukemia
277602003   Acute megakaryoblastic leukemia
52220008    Acute megakaryoblastic leukemia
C92.0       Acute myeloid leukaemia
205         Myeloid leukemia, acute
17788007    Acute myeloid leukemia
413443009   Acute myeloid leukemia
91861009    Acute myeloid leukemia, disease
237996001   Long chain acyl-CoA dehydrogenase deficiency
237996001   Long chain acyl-CoA dehydrogenase deficiency
128596003   Medium-chain acyl-coenzyme A dehydrogenase deficiency
128596003   Medium-chain acyl-coenzyme A dehydrogenase deficiency
124166007   Deficiency of butyryl-CoA dehydrogenase
124166007   Deficiency of butyryl-CoA dehydrogenase
E27.1       Primary adrenocortical insufficiency
363732003   Addison's disease
373662000   Primary adrenocortical insufficiency
189582009   [M]Adenocarcinoma NOS
35917007    Adenocarcinoma
11671000    Adenoid cystic carcinoma
71404003    Lipomatosis dolorosa
237775000   Adrenal hypertrophy or hyperplasia
127021009   Neoplasm of adrenal gland
65389002    Adrenoleukodystrophy
B56.9       African trypanosomiasis, unspecified
B56         African trypanosomiasis
86.5        African trypanosomiasis, unspecified
186818008   African trypanosomiasis NOS
187512007   [X]African trypanosomiasis, unspecified
27031003    African trypanosomiasis
78940002    Sleeping sickness
Q43.1       Hirschsprung's disease
204739008   Hirschsprung's disease
204742002   Hirschsprung's disease NOS
360436002   Congenital megacolon
367495003   Macrocolon
R48.1       Agnosia
206989009   [D]Agnosia
42341009    Agnosia

L94.6       Ainhum
136         Ainhum
38528001    Ainhum
31742004    Arteriohepatic dysplasia
E70.3       Albinism
15890002    Albinism
81854007    Alexander's disease
360378009   Homogentisate 1,2-dioxygenase deficiency
360381004   Alkaptonuria
518.6       Allergic bronchopulmonary aspergillosis
37981002    Allergic bronchopulmonary aspergillosis
D56.0       Alpha thalassaemia
48553001    Hemoglobin H disease
68913001    alpha Thalassemia
273.4       Alpha-1-antitrypsin deficiency
30188007    Alpha-1-antitrypsin deficiency
124466001   Deficiency of alpha-mannosidase
65524005    Alpha-D-mannosidosis
399340005   Hereditary nephritis
63702009    Alstrom syndrome
404053004   Alveolar rhabdomyosarcoma
63449009    Alveolar rhabdomyosarcoma
404056007   Alveolar soft part sarcoma
88195001    Alveolar soft part sarcoma
F00.9       Dementia in Alzheimer's disease, unspecified
F00         Dementia in Alzheimer's disease
G30.9       Alzheimer's disease, unspecified
G30         Alzheimer's disease
331         Alzheimer's disease
192160005   [X]Dementia in Alzheimer's disease
192164001   [X]Dementia in Alzheimer's disease, unspecified
26929004    Alzheimer's disease
G45.3       Amaurosis fugax
88032003    Amaurosis fugax
A06.9       Amoebiasis, unspecified
A06         Amoebiasis
6.9         Amebiasis, unspecified
6           Amebiasis
105637008   Disease due to Endamoebidae
111910009   Amebic infection
186122001   Amebiasis NOS
187278004   [X]Amebiasis, unspecified
388759003   Infection due to Entamoeba histolytica
189902002   [M]Ameloblastoma NOS
20462008    Ameloblastoma
84115008    Amniotic band syndrome
193187004   Polyneuropathy in amyloidosis
E85.9       Amyloidosis, unspecified
E85         Amyloidosis
277.3       Amyloidosis, unspecified
277.3       Amyloidosis
17602002    Amyloidosis
190931005   Amyloidosis NOS
335.2       Amyotrophic lateral sclerosis
86044005    Amyotrophic lateral sclerosis
126849006   Neoplasm of anus
200.6       Anaplastic large cell lymphoma
277637000   Large cell anaplastic lymphoma
53237008    Anaplastic large cell lymphoma, T cell and Null cell type
422348008   Andersen Tawil syndrome
254866007   Sertoli-Leydig cell tumor of ovary
62283005    Androblastoma, no ICD-O subtype
Q00.0       Anencephaly
740         Anencephalus
203926007   Anencephalus NOS
89369001    Anencephalus
76880004    Angelman syndrome
207036003   Angiofollicular lymph node hyperplasia
238809002   Giant lymph node hyperplasia
239007005   Hypohidrotic X-linked ectodermal dysplasia
7731005     Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
Q13.1       Absence of iris
743.45      Aniridia
69278003    Congenital aniridia
M45         Ankylosing spondylitis
720         Ankylosing spondylitis
9631008     Ankylosing spondylitis
A22.9       Anthrax, unspecified
A22         Anthrax
22.9        Anthrax, unspecified
22          Anthrax
186304006   Anthrax NOS
187302001   [X]Anthrax, unspecified
409498004   Anthrax

26843008    Antiphospholipid syndrome
359789008   Aortic arch syndrome
Q25.1       Coarctation of aorta
747.1       Coarctation of aorta (preductal) (postductal)
747.1       Coarctation of aorta
204419005   Coarctation of aorta NOS
7305005     Coarctation of aorta
D61.9       Aplastic anaemia, unspecified
284.9       Aplastic anemia, unspecified
191258001   Aplastic anemia NOS
304132006   Hematopoietic aplasia
306058006   Aplastic anemia
33595009    Arachnoid cyst
8217007     Arachnoiditis
23501004    Arginase deficiency
41013004    Argininosuccinate lyase deficiency
Q07.0       Arnold-Chiari syndrome
253184003   Chiari malformation
373587001   Arnold-Chiari syndrome
253528005   Arrhythmogenic right ventricular dysplasia
281170005   Arrhythmogenic right ventricular cardiomyopathy
Q74.3       Arthrogryposis multiplex congenita
111246005   Arthrogryposis
205403009   Arthrogryposis, unspecified
77016009    Amyoplasia congenita disruptive sequence
501         Asbestosis
196006003   Asbestosis NOS
22607003    Asbestosis
54954004    Aspartylglucosaminuria
38713004    Astrocytoma
68504005    Ataxia-telangiectasia syndrome

229752008   Auditory processing disorder
283         Autoimmune hemolytic anemias
191215000   Autoimmune hemolytic anemia NOS
413603009   Autoimmune hemolytic anemia
K75.4       Autoimmune hepatitis
571.42      Autoimmune hepatitis
197284004   Autoimmune chronic active hepatitis
408335007   Autoimmune hepatitis



2065009     Dominant hereditary optic atrophy
Q61.2       Polycystic kidney, adult type
753.13      Polycystic kidney, autosomal dominant
28728008    Polycystic kidney disease, adult type
27025001    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Q61.1       Polycystic kidney, infantile type
753.14      Polycystic kidney, autosomal recessive
28770003    Polycystic kidney disease, infantile type
B60.0       Babesiosis
88.82       Babesiosis
21061004    Babesiosis
A07.0       Balantidiasis
7           Balantidiasis
105638003   Disease due to Balantidiidae
57725006    Balantidiasis
N15.0       Balkan nephropathy
26121002    Balkan nephropathy
297231002   3-Methylglutaconic aciduria type 2
A44.9       Bartonellosis, unspecified
A44         Bartonellosis
88          Bartonellosis
187340003   [X]Bartonellosis, unspecified
266123003   Bartonellosis
255.13      Bartter's syndrome
71275003    Aldosteronism with hyperplasia of the adrenal cortex
69408002    Gorlin syndrome
387732009   Becker muscular dystrophy
36193003    Thalidomide embryopathy syndrome
81780002    Beckwith-Wiedemann syndrome
M35.2       Behcet's disease
136.1       Behcet's syndrome
310701003   Behcet's syndrome
189769003   [M]Fibrous histiocytoma NOS
189770002   [M]Fibroxanthoma NOS
25889007    Benign fibrous histiocytoma
K14.1       Geographic tongue
529.1       Geographic tongue
59032001    Geographic tongue
L12.1       Cicatricial pemphigoid
694.6       Benign mucous membrane pemphigoid
200915000   Benign mucous membrane pemphigoid NOS
34250006    Benign mucous membrane pemphigoid
38281008    Benign neonatal convulsions
284449005   Congenital total lipodystrophy
286289004   Familial generalized lipodystrophy
86907008    Lawrence syndrome
284449005   Congenital total lipodystrophy
286289004   Familial generalized lipodystrophy
86907008    Lawrence syndrome
234478007   Giant platelet syndrome
54569005    Bernard Soulier syndrome
238047006   Beta-D-mannosidosis

K74.5       Biliary cirrhosis, unspecified
571.6       Biliary cirrhosis
1761006     Biliary cirrhosis
197311004   Biliary cirrhosis NOS
8808004     Biotinidase deficiency
239.4       Neoplasm of unspecified nature of bladder
126885006   Neoplasm of bladder
189535002   Neoplasm of unspecified nature of bladder
B40.9       Blastomycosis, unspecified
B40         Blastomycosis
116         Blastomycosis
116         Blastomycotic infection
187071002   Blastomycosis NOS
187075006   Blastomycotic infection NOS
187484004   [X]Blastomycosis, unspecified
191950004   Infection by Blastomyces dermatitidis
69996000    Blastomycosis
4434006     Bloom syndrome
M87.9       Osteonecrosis, unspecified
M87         Osteonecrosis
240196003   Bone necrosis
M88.9       Paget's disease of bone, unspecified
M88         Paget's disease of bone [osteitis deformans]
731         Osteitis deformans without mention of bone tumor
203353000   Paget's disease OS
203354006   Paget's disease NOS
2089002     Osteitis deformans
A05.1       Botulism
398523009   Botulism
398530003   Botulism
398565003   Botulism
414531002   Botulism
G54.0       Brachial plexus disorders
3548001     Brachial plexus disorder
26609002    Shoulder girdle syndrome
3548001     Brachial neuritis
72893007    Brachial neuritis
G23.0       Hallervorden-Spatz disease
2992000     Pigmentary pallidal degeneration
G23.0       Hallervorden-Spatz disease
2992000     Pigmentary pallidal degeneration
27982003    Brown-Séquard syndrome
A23.9       Brucellosis, unspecified
A23         Brucellosis
23.9        Brucellosis, unspecified
23          Brucellosis
186310006   Brucellosis NOS
187304000   [X]Brucellosis, unspecified
75702008    Brucellosis
418818005   Brugada syndrome
426.5       Bundle branch block, unspecified
195048003   Bundle branch block unspecified
6374002     Bundle branch block
C83.7       Burkitt's tumour non-Hodgkin's lymphoma
200.2       Burkitt's tumor or lymphoma
118617000   Burkitt's lymphoma (clinical)
188509006   Burkitt's lymphoma of unspecified site
188518008   Burkitt's lymphoma NOS
190022008   [M]Burkitt's tumors
190023003   [M]Burkitt's tumor NOS
397400006   Burkitt lymphoma/leukemia
77381001    Burkitt lymphoma
399165002   Burning mouth syndrome
15845006    Buruli ulcer
J66.0       Byssinosis
85761009    Byssinosis
237900002   Calciphylaxis

Q78.3       Progressive diaphyseal dysplasia
34643004    Diaphyseal dysplasia
80544005    Spongy degeneration of central nervous system
87730004    Capillary leak syndrome
62522004    Congenital hyperammonemia, type I
238049009   Carbohydrate-deficient glycoprotein syndrome
403770008   Cardio-facio-cutaneous syndrome
239132009   Atrial myxoma with lentigines
111331000   Congenital dilatation of lobar intrahepatic bile duct
46263000    Cataplexy
A28.1       Cat-scratch disease
78.3        Cat-scratch disease
79974007    Cat scratch disease
33377007    Cavernous hemangioma
416824008   Cavernous hemangioma
43152001    Central core disease



G37.2       Central pontine myelinolysis
6807001     Central pontine myelinolysis
95646004    Cerebellar degeneration
I68.0       Cerebral amyloid angiopathy
230724001   Cerebral amyloid angiopathy

388.61      Cerebrospinal fluid otorrhea
68382005    Cerebrospinal fluid otorrhea
349.81      Cerebrospinal fluid rhinorrhea
85638002    Cerebrospinal fluid rhinorrhea
63246000    Cholestanol storage disease
254832003   Benign symmetric lipomatosis
63365006    Madelung's neck
M53.0       Cervicocranial syndrome
723.2       Cervicocranial syndrome
17300000    Cervicocranial syndrome
B57         Chagas' disease
77506005    Infection by Trypanosoma cruzi
G60.0       Hereditary motor and sensory neuropathy
398100001   Hereditary motor and sensory neuropathy
G60.0       Hereditary motor and sensory neuropathy
398100001   Hereditary motor and sensory neuropathy
111396008   Chédiak-Higashi syndrome
53432004    Cherubism
T69.1       Effects of chilblains
991.5       Chilblains
37869000    Chilblains
231484006   Childhood schizophrenia NOS
A70         Chlamydia psittaci infection
312104005   Cholangiocarcinoma of biliary tract
70179006    Cholangiocarcinoma
K81.9       Cholecystitis, unspecified
K81         Cholecystitis
575.1       Cholecystitis, unspecified
197414008   Cholecystitis NOS
76581006    Cholecystitis
Q44.4       Choledochal cyst
397868007   Choledochocele
398197009   Congenital choledochal cyst
Q77.3       Chondrodysplasia punctata
205486004   Chondrodysplasia punctata
278715001   Chondrodysplasia punctata
360507004   Chondrodysplasia punctata congenita
14990007    Chondrosarcoma
189886003   [M]Chondrosarcoma NOS
271700006   Chorea
18021007    Choroid plexus papilloma
363.55      Choroideremia
75241009    Choroideremia



Q99.9       Chromosomal abnormality, unspecified
758.9       Conditions due to anomaly of unspecified chromosome
758         Chromosomal anomalies
205724000   Chromosomal anomalies NOS
205729005   Conditions due to anomaly of unspecified chromosome NOS
409709004   Chromosomal disorder
74345006    Congenital chromosomal disease

128209004   Chronic inflammatory demyelinating polyradiculoneuropathy
C92.1       Chronic myeloid leukaemia
205.1       Myeloid leukemia, chronic
188735005   Chronic myeloid leukemia NOS
63364005    Chronic myeloid leukemia
92818009    Chronic myeloid leukemia
577.1       Chronic pancreatitis
233870001   Recurrent pancreatitis
234689009   Relapsing pancreatitis
235494005   Chronic pancreatitis
M30.1       Polyarteritis with lung involvement [Churg-Strauss]
82275008    Allergic granulomatosis angiitis
52985009    Chylous ascites
124711003   Deficiency of argininosuccinate synthase
398630005   Citrullinuria
398680004   Citrullinemia
253147000   Type 1 lissencephaly
253147000   Type 1 lissencephaly
65976001    Cleidocranial dysostosis
Q82.2       Mastocytosis
125541005   Mast cell hyperplasia
397007003   Mast cell disorder
78745000    Mastocytosis
Q66.0       Talipes equinovarus
754.51      Talipes equinovarus, congenital
249808002   Equinovarus deformity of foot
253957000   Clubfoot NOS
397932003   Talipes equinovarus
J60         Coalworker's pneumoconiosis
500         Coal workers' pneumoconiosis
29422001    Coal workers' pneumoconiosis
B38.9       Coccidioidomycosis, unspecified
B38         Coccidioidomycosis
114.9       Coccidioidomycosis, unspecified
114         Coccidioidomycosis
187035003   Coccidioidomycosis NOS
187481007   [X]Coccidioidomycosis, unspecified
60826002    Coccidioidomycosis
7.2         Coccidiosis
62005008    Coccidiosis
21086008    Cockayne syndrome
15182000    Coffin-Lowry syndrome
404633004   Cogan-Reese syndrome
R40.2       Coma, unspecified
780.01      Coma
307760008   [D]Coma
371632003   Coma
D83.9       Common variable immunodeficiency, unspecified
D83         Common variable immunodeficiency
279.06      Common variable immunodeficiency
23238000    Common variable agammaglobulinemia
237751000   Congenital adrenal hyperplasia
24752008    Infantile cortical hyperostosis
D64.4       Congenital dyserythropoietic anaemia
52951008    Congenital dyserythropoietic anemia

82077006    Myotubular myopathy
A50.9       Congenital syphilis, unspecified
A50         Congenital syphilis
90.9        Congenital syphilis, unspecified
90          Congenital syphilis
186845009   Congenital syphilis NOS
187352005   [X]Congenital syphilis, unspecified
35742006    Congenital syphilis

Q24.2       Cor triatriatum
746.82      Cor triatriatum
55510008    Cor triatriatum
40354009    De Lange syndrome
309776008   Costello syndrome
58037000    Cowden syndrome
Q75.1       Craniofacial dysostosis
28861008    Crouzon syndrome

Q75.0       Craniosynostosis
57219006    Craniosynostosis syndrome
M34.1       CR(E)ST syndrome
31848007    CREST syndrome
M34.1       CR(E)ST syndrome
31848007    CREST syndrome
M34.1       CR(E)ST syndrome
31848007    CREST syndrome
A81.0       Creutzfeldt-Jakob disease
46.1        Jakob-Creutzfeldt disease
792004      Jakob-Creutzfeldt disease
Q93.4       Deletion of short arm of chromosome 5
758.31      Cri-du-chat syndrome
70173007    5p partial monosomy syndrome
E80.5       Crigler-Najjar syndrome
28259009    Crigler-Najjar syndrome
8933000     Crigler-Najjar syndrome, type I
K50.9       Crohn's disease, unspecified
K50         Crohn's disease [regional enteritis]
196984001   Crohn's disease NOS
34000006    Crohn's disease
430079001   Cryopyrin associated periodic syndrome
B55.1       Cutaneous leishmaniasis
240637006   Cutaneous leishmaniasis
28054005    Cutaneous T-cell lymphoma
400122007   Primary cutaneous T-cell lymphoma
58588007    Cutis laxa
E84.9       Cystic fibrosis, unspecified
E84         Cystic fibrosis
277         Cystic fibrosis
190905008   Cystic fibrosis
190911006   Cystic fibrosis NOS
B69.9       Cysticercosis, unspecified
B69         Cysticercosis
123.1       Cysticercosis
105684008   Infection by tapeworm larvae
187527007   [X]Cysticercosis, unspecified
59051007    Cysticercosis
190681003   Cystinosis
85020001    Cystinuria
B25.9       Cytomegaloviral disease, unspecified
B25         Cytomegaloviral disease
78.5        Cytomegaloviral disease
187456009   [X]Cytomegaloviral disease, unspecified
28944009    Cytomegalovirus infection
Q03.1       Atresia of foramina of Magendie and Luschka
14447001    Dandy-Walker syndrome
48611009    Keratosis follicularis
414673004   De Sanctis-Cacchione syndrome
267678002   Deafness NOS



A90         Dengue fever [classical dengue]
61          Dengue
38362002    Dengue
A91         Dengue haemorrhagic fever
20927009    Dengue hemorrhagic fever
196286005   Dentinogenesis imperfecta
236385009   Drash syndrome
L13.0       Dermatitis herpetiformis
694         Dermatitis herpetiformis
111196000   Dermatitis herpetiformis
Q24.0       Dextrocardia
27637000    Dextrocardia
E23.2       Diabetes insipidus
253.5       Diabetes insipidus
15771004    Diabetes insipidus
234371002   Congenital pure red cell aplasia
28975000    Hypoplastic anemia - familial
71988008    Aase syndrome
88854002    Chronic constitutional pure red cell aplasia
G37.0       Diffuse sclerosis
341.1       Schilder's disease
49692006    Schilder's disease
M48.1       Ankylosing hyperostosis [Forestier]
721.6       Ankylosing vertebral hyperostosis
31487001    Disseminated idiopathic skeletal hyperostosis
399955009   Diffuse palmoplantar keratoderma of Thost-Unna
400123002   Hereditary diffuse palmoplantar keratoderma
D82.1       Di George's syndrome
279.11      DiGeorge's syndrome
77128003    DiGeorge sequence

I42.0       Dilated cardiomyopathy
195021004   Primary dilated cardiomyopathy
399020009   Congestive cardiomyopathy
125.4       Dipetalonemiasis
15629006    Infection by Dipetalonema
58795000    Distal muscular dystrophy
111307005   Leprechaunism syndrome
Q90.9       Down's syndrome, unspecified
Q90         Down's syndrome
758         Down's syndrome
254263008   Down's syndrome NOS
41040004    Complete trisomy 21 syndrome
Q90.9       Down's syndrome, unspecified
Q90         Down's syndrome
758         Down's syndrome
254263008   Down's syndrome NOS
41040004    Complete trisomy 21 syndrome
B72         Dracunculiasis
125.7       Dracontiasis
396334002   Infection by Dracunculus medinensis
375.15      Tear film insufficiency, unspecified
46152009    Tear film insufficiency
375.15      Tear film insufficiency, unspecified
46152009    Tear film insufficiency
378.71      Duane's syndrome
60318001    Duane's syndrome
44553005    Dubin-Johnson syndrome
387732009   Benign Duchenne muscular dystrophy
76670001    Duchenne muscular dystrophy



Q22.5       Ebstein's anomaly
746.2       Ebstein's anomaly
204357006   Ebstein's anomaly
253443005   Ebstein's anomaly
253468007   Ebstein's anomaly of right atrioventricular valve
128685001   Eccrine poroma, malignant
254708001   Eccrine porocarcinoma
B67         Echinococcosis
122         Echinococcosis
187143006   Echinococcus NOS
74942003    Echinococcosis
757.31      Congenital ectodermal dysplasia
254154003   Congenital ectodermal defect
8654005     Ectodermal dysplasia
205239000   Ectromelia of unspecified limb
43036001    Ectromelia
Q79.6       Ehlers-Danlos syndrome
756.83      Ehlers-Danlos syndrome
398114001   Ehlers-Danlos syndrome
Q77.6       Chondroectodermal dysplasia
756.55      Chondroectodermal dysplasia
62501005    Chondroectodermal dysplasia
111508004   Emery-Dreifuss muscular dystrophy
237722004   Empty sella syndrome
267578009   Encephalitis NOS
45170000    Encephalitis
Q01.9       Encephalocele, unspecified
Q01         Encephalocele
742         Encephalocele
204027009   Encephalocele NOS
253101008   Congenital cerebral hernia
55999004    Encephalocele
Q78.4       Enchondromatosis
268274005   Enchondromatosis
A75.2       Typhus fever due to Rickettsia typhi
81          Murine [endemic] typhus
25668000    Murine typhus

64613007    Enteritis
128810002   Langerhans cell histiocytosis, unifocal
129000002   Langerhans cell histiocytosis, unifocal (clinical)
189913004   [M]Ependymoma NOS
57706008    Ependymoma
A75.0       Epidemic louse-borne typhus fever due to Rickettsia prowazekii
80          Louse-borne [epidemic] typhus
39111003    Louse-borne typhus
Q81.9       Epidermolysis bullosa, unspecified
Q81         Epidermolysis bullosa
61003004    Epidermolysis bullosa
L12.3       Acquired epidermolysis bullosa
2772003     Acquired epidermolysis bullosa
Q81.2       Epidermolysis bullosa dystrophica
254185007   Dystrophic epidermolysis bullosa
Q81.0       Epidermolysis bullosa simplex
67144006    Epidermolysis bullosa simplex
Q80.3       Congenital bullous ichthyosiform erythroderma
20512000    Congenital bullous ichthyosiform erythroderma
239071005   Epidermolytic palmoplantar hyperkeratosis
254167000   Bullous ichthyosiform erythroderma
G40.9       Epilepsy, unspecified
G40         Epilepsy
345.9       Epilepsy, unspecified
128613002   Seizure disorder
246545002   EF - Epileptic fit
267593008   Epilepsy NOS
313307000   Epileptic seizure
84757009    Epilepsy
125574005   Angiolymphoid hyperplasia with eosinophilia
33929001    Epithelioid hemangioma
B08.3       Erythema infectiosum [fifth disease]
57          Erythema infectiosum [fifth disease]
34730008    Erythema infectiosum
70041004    Erythrokeratodermia variabilis
443.82      Erythromelalgia
37151006    Erythromelalgia
E80.0       Hereditary erythropoietic porphyria
190913009   Congenital porphyria
22935002    Congenital erythropoietic porphyria
67312003    Erythropoietic porphyria
51022005    Erythropoietic protoporphyria
51022005    Erythropoietic protoporphyria
K22.0       Achalasia of cardia
530         Achalasia and cardiospasm
235630008   Hypertensive lower esophageal sphincter
45564002    Achalasia of esophagus
232336001   Paget's disease of skin
71447003    Paget's disease, extramammary (except Paget's disease of bone)

15253005    Facial asymmetry
95834000    Facial hemiatrophy
399091004   Facioscapulohumeral muscular dystrophy
234621005   Factor I deficiency
278504009   Afibrinogenemia
359727008   Fibrinogen deficiency
D68.1       Hereditary factor XI deficiency
286.2       Congenital factor XI deficiency
49762007    Hereditary factor XI deficiency disease
46981006    Factor XII deficiency disease
126916003   Neoplasm of fallopian tube
70921007    Adenomatous polyposis coli
72900001    Familial multiple polyposis syndrome
70921007    Adenomatous polyposis coli
72900001    Familial multiple polyposis syndrome
42295001    Familial amyloid polyneuropathy

79468000    Familial benign pemphigus
G90.1       Familial dysautonomia [Riley-Day]
29159009    Familial dysautonomia

277.31      Familial Mediterranean fever
12579009    Familial Mediterranean fever
49292002    Familial partial lipodystrophy
267607008   Familial periodic paralysis
30575002    Fanconi's anemia
190681003   Lignac-Fanconi syndrome
236466005   Congenital Fanconi syndrome
40488004    Fanconi syndrome
62332007    Infantile nephropathic cystinosis
79935000    Farber's lipogranulomatosis
46.72       Fatal familial insomnia
83157008    Fatal familial insomnia
M05.0       Felty's syndrome
714.1       Felty's syndrome
57160007    Felty's syndrome
P04.3       Fetus and newborn affected by maternal use of alcohol
Q86.0       Fetal alcohol syndrome (dysmorphic)
760.71      Alcohol affecting fetus or newborn via placenta or breast milk
205788004   Fetal alcohol syndrome
205791004   Fetus and newborn affected by maternal use of alcohol
36558000    Fetus OR newborn affected by alcohol transmitted via placenta AND/OR breast milk
I77.3       Arterial fibromuscular dysplasia
195370007   Fibromuscular hyperplasia of arteries NOS
31653004    Fibromuscular dysplasia
359553002   Fibromuscular hyperplasia of artery
205573006   Focal dermal hypoplasia
2298005     Goltz syndrome
236403004   Focal segmental glomerulosclerosis
25821008    Focal glomerular sclerosis
L75.2       Apocrine miliaria
705.82      Fox-Fordyce disease
65038009    Fox-Fordyce disease
759.83      Fragile X syndrome
613003      Fragile X syndrome
334         Friedreich's ataxia
10394003    Friedreich's ataxia
334         Friedreich's ataxia
10394003    Friedreich's ataxia
331.1       Frontotemporal dementia
230270009   Frontotemporal dementia
193839007   Fuchs' corneal dystrophy
64716005    Fucosidosis

271.1       Galactosemia
190745006   Galactosemia
190747003   Galactosemia NOS
190749000   Galactose intolerance
126854002   Neoplasm of gallbladder
89880005    Ganglioglioma, no ICD-O subtype
60876000    Gardner syndrome
43935004    Vascular ectasia of gastric antrum
128755003   GANT
420120006   Gastrointestinal stromal tumor
Q79.3       Gastroschisis
72951007    Gastroschisis
180485001   Kerasin thesaurismosis
190794006   Gaucher's disease
62201009    Chronic non-neuropathic Gaucher's disease
249782009   Bowing of leg
299331007   Knee joint - varus deformity
46.71       Gerstmann-Straussler-Scheinker syndrome
67155006    Gerstmann-Straussler-Scheinker syndrome
128207002   Giant axonal neuropathy
535.2       Gastric mucosal hypertrophy
413219009   Hypertrophic gastropathy
60002000    Hypertrophic gastritis
E80.4       Gilbert's syndrome
27503000    Gilbert's syndrome
3188003     Familial hypokalemia-hypomagnesemia
30577005    Thromboasthenia
32942005    Glanzmann's thrombasthenia
269506004   [M]Glioblastoma NOS
63634009    Glioblastoma
10438002    Glomus tumor
403969002   Glomus tumor
237939006   Non-ketotic hyperglycinemia
E74.0       Glycogen storage disease
271         Glycogenosis
190744005   Glycogenosis NOS
29633007    Glycogen storage disease
124134002   Deficiency of glucose-6-phosphate dehydrogenase
124437004   Deficiency of glucose-6-phosphatase
62403005    Glucose-6-phosphate dehydrogenase deficiency
7265005     Glycogen storage disease, type I
124454007   Deficiency of glucan 1,4-alpha-glucosidase
124462004   Deficiency of alpha-glucosidase
237967002   Glycogen storage disease, type II
237968007   Pompe's disease
267424007   Generalized glycogenosis
419097006   Danon disease
124472001   Deficiency of amylo-1,6-glucosidase
66937008    Glycogen storage disease type III
11179002    Glycogen storage disease, type IV
124267007   Deficiency of 1,4-alpha-glucan branching enzyme
55912009    Glycogen storage disease, type V
124465002   Deficiency of beta-galactosidase
238025006   GM1 gangliosidosis
238044004   Beta-galactosidase deficiency
32917001    GM>1< gangliosidosis
109393007   Otomandibular dysostosis
15557005    First arch syndrome
205418005   Goldenhar syndrome
254025006   First AND second branchial arch syndrome
367462009   First and second branchial arch syndrome
446.21      Goodpasture's syndrome
236506009   Goodpasture's disease
50581000    Goodpasture's syndrome
L92.0       Granuloma annulare
65508009    Granuloma annulare
189734000   [M]Granulosa cell tumor NOS
237510004   Basedow's disease
353295004   Graves' disease
367367004   Basedow's disease
55807009    Toxic diffuse goiter with exophthalmos
51720005    Gray platelet syndrome
Q20.3       Discordant ventriculoarterial connection
745.1       Complete transposition of great vessels
745.1       Transposition of great vessels
204296002   Discordant ventriculoarterial connection
204297006   Total great vessel transposition
26146002    Complete transposition of great vessels
268176002   Great vessel transposition NOS

314467007   Gyrate atrophy
704         Alopecia, unspecified
704         Alopecia
201157003   Alopecia NOS
267810004   Alopecia unspecified
278040002   Loss of hair
56317004    Alopecia
C91.4       Hairy-cell leukaemia
202.4       Leukemic reticuloendotheliosis
118613001   Hairy cell leukemia (clinical)
188644003   Leukemic reticuloendotheliosis of unspecified sites
188653005   Leukemic reticuloendotheliosis NOS
54087003    Hairy cell leukemia
255225007   Overgrowth of filiform papillae
81934005    Hairy tongue
63122002     Hajdu-Cheney syndrome
7903009      Hallermann-Streiff syndrome
398028009    Halo nevus
78325005     Halo nevus
120639003    Hantavirus pulmonary syndrome
124208000    Deficiency of tryptophan 2,3-dioxygenase
80902009     Neutral 1 amino acid transport defect
245.2        Chronic lymphocytic thyroiditis
21983002     Hashimoto thyroiditis
245.2        Chronic lymphocytic thyroiditis
21983002     Hashimoto thyroiditis
95605009     HELLP syndrome
B65-B83.9    Helminthiases
B83.9        Helminthiasis, unspecified
120-129.99   HELMINTHIASES
128.9        Helminth infection, unspecified
187189004    Helminthiasis NOS
187542005    [X]Helminthiasis, unspecified
27601005     Helminth infection
81201000     Hemangioblastoma
134335004    Hemangiopericytoma
36060005     Hemangiopericytoma
399126000    Bronze cirrhosis
399144008    Bronze diabetes
399187006    Hemochromatosis
51053007     Hemoglobin C disease
80141007     Hemoglobinopathy
D59.3        Haemolytic-uraemic syndrome
283.11       Hemolytic-uremic syndrome
111407006    Hemolytic uremic syndrome
D76.1        Haemophagocytic lymphohistiocytosis
234437005    Hemophagocytic lymphohistiocytosis
D66          Hereditary factor VIII deficiency
286          Congenital factor VIII disorder
234440005    Factor VIII deficiency
28293008     Hemophilia A
D67          Hereditary factor IX deficiency
286.1        Congenital factor IX disorder
41788008     Hemophilia B
A98.5        Haemorrhagic fever with renal syndrome
78.6         Hemorrhagic nephrosonephritis
102455002    Hemorrhagic nephroso-nephritis
364756009    Puumala virus nephropathy
D69.0        Allergic purpura
287          Allergic purpura
191306005    Henoch-Sch├╢nlein purpura
191308006    Allergic purpura NOS
21148002    Allergic purpura
C22.0       Liver cell carcinoma
109841003   Liver cell carcinoma (clinical)
187769009   Primary carcinoma of liver
25370001    Hepatocellular carcinoma
C22.0       Liver cell carcinoma
109841003   Liver cell carcinoma (clinical)
187769009   Primary carcinoma of liver
25370001    Hepatocellular carcinoma
111386004   Homozygous porphyria cutanea tarda
190823004   Westphal-Strumpell syndrome
192640001   Cerebral pseudosclerosis
88518009    Wilson's disease
82966003    Hereditary angioneurotic edema

7425008     Hereditary coproporphyria
271.2       Hereditary fructose intolerance
20052008    Hereditary fructosuria
D58.9       Hereditary haemolytic anaemia, unspecified
282.9       Hereditary hemolytic anemia, unspecified
282         Hereditary hemolytic anemias
191208008   Hereditary hemolytic anemia NOS
38911009    Hereditary hemolytic anemia
42601008    Congenital hemolytic anemia
I78.0       Hereditary haemorrhagic telangiectasia
448         Hereditary hemorrhagic telangiectasia
21877004    Osler hemorrhagic telangiectasia syndrome
I78.0       Hereditary haemorrhagic telangiectasia
448         Hereditary hemorrhagic telangiectasia
21877004    Osler hemorrhagic telangiectasia syndrome



315058005   Hereditary nonpolyposis colon cancer

9311003     Hermansky-Pudlak syndrome

B00.4       Herpesviral encephalitis
428638009   Encephalitis due to Herpesviridae
53.11       Geniculate herpes zoster
53.71       Otitis externa due to herpes zoster
21954000    Herpes zoster auricularis
36292003    Otitis externa due to Herpes zoster

400099008   Eccrine acrospiroma
81143000    Eccrine acrospiroma

127217009   Histiocytic necrotizing lymphadenitis
124611007   Deficiency of hydroxymethylglutaryl-CoA lyase
C81.9       Hodgkin's disease, unspecified
C81         Hodgkin's disease
201         Hodgkin's paragranuloma
201.2       Hodgkin's sarcoma
201.9       Hodgkin's disease, unspecified type
201         Hodgkin's disease
118599009   Hodgkin's disease (clinical)
118605002   Hodgkin's paragranuloma (clinical)
118606001   Hodgkin's sarcoma (clinical)
14537002    Hodgkin lymphoma
188522003   Hodgkin's paragranuloma of unspecified site
188532005   Hodgkin's paragranuloma NOS
188543002   Hodgkin's sarcoma of unspecified site
188552006   Hodgkin's sarcoma NOS
188595005   Hodgkin's disease NOS
188596006   Hodgkin's disease NOS, unspecified site
189991001   [M]Hodgkin's paragranuloma
269509006   [M]Lymphogranuloma, malignant
309831004   [M]Hodgkin's disease NOS
46923007    Hodgkin sarcoma [obs]
70600005    Hodgkin paragranuloma [obs]
24225004    Adie's pupil syndrome
24225004    Adie's pupil syndrome
Q04.2       Holoprosencephaly
30915001    Holoprosencephaly sequence
11282001    Homocystinuria
E76.1       Mucopolysaccharidosis, type II
70737009    Mucopolysaccharidosis, MPS-II
E76.1       Mucopolysaccharidosis, type II
70737009    Mucopolysaccharidosis, MPS-II
G10         Huntington's disease
333.4       Huntington's chorea
58756001    Huntington's chorea
254069004   Dysostosis multiplex
65327002    Mucopolysaccharidosis, MPS-I-H
46775006    HMD - Hyaline membrane disease
O01.0       Classical hydatidiform mole
O01.9       Hydatidiform mole, unspecified
O01         Hydatidiform mole
630         Hydatidiform mole
189856005   [M]Hydatidiform mole NOS
417044008   Molar pregnancy with vesicular mole
44782008    Molar pregnancy
48430004    Hydatidiform mole
200832000   Hydroa estivale
200837006   Hydroa vacciniforme
G91.9       Hydrocephalus, unspecified
G91         Hydrocephalus
230745008   Hydrocephalus
276508000   Hydrops fetalis
B71.0       Hymenolepiasis
123.6       Hymenolepiasis
44917000    Hymenolepiasis
23501004    Arginase deficiency
419503008   Hyperhomocysteinemia
E78.3       Hyperchylomicronaemia
272.3       Hyperchylomicronemia
238086005   Familial lipoprotein lipase deficiency
267435002   Familial lipoprotein lipase deficiency
275598004   Hyperlipoproteinemia, type I
403827000   Familial lipoprotein lipase deficiency with type I phenotype
82054006    Hyperostosis interna frontalis
I42.1       Obstructive hypertrophic cardiomyopathy
425.1       Hypertrophic obstructive cardiomyopathy
233873004   Hypertrophic cardiomyopathy
45227007    Hypertrophic obstructive cardiomyopathy
190784001   High density lipoid deficiency
190785000   Hypoalphalipoproteinemia
44452003    Hypochromic anemia
240093008   Hypokalemic periodic paralysis
82732003    Familial hypokalemic periodic paralysis
E20.9       Hypoparathyroidism, unspecified
E20         Hypoparathyroidism
252.1       Hypoparathyroidism
190457001   Hypoparathyroidism NOS
36976004    Hypoparathyroidism
190859005   Hypophosphatasia
360792001   Deficiency of alkaline phosphatase
E23.0       Hypopituitarism
237681002   Hypopituitarism NOS
74728003    Hypopituitarism
Q80.9       Congenital ichthyosis, unspecified
Q80         Congenital ichthyosis
757.1       Ichthyosis congenita
13059002    Congenital ichthyosis of skin
205547001   Congenital ichthyosis, unspecified
268283000   Ichthyosis congenita NOS
254169002   Ichthyosis bullosa of Siemens
Q80.0       Ichthyosis vulgaris
20512000    Dominant congenital ichthyosiform erythroderma
254157005   Ichthyosis vulgaris
516.3       Idiopathic fibrosing alveolitis
236302005   Hamman Rich syndrome
28168000    Idiopathic fibrosing alveolitis, chronic form
45157009    Idiopathic interstitial pneumonia
D69.3       Idiopathic thrombocytopenic purpura
13172003    Werlhof's disease
32273002    Idiopathic thrombocytopenic purpura
197632002   Berger's IgA or IgG nephropathy
236407003   IgA nephropathy
68779003    Primary IgA nephropathy
52457000    Ileitis

204712000   Anal atresia
204731006   Imperforate anus
204733009   Imperforate anus NOS

72315009    Inclusion body myositis
Q82.3       Incontinentia pigmenti
367520004   Incontinentia pigmenti syndrome
52713000    Infantile neuroaxonal dystrophy
238062008   Infantile Refsum's disease
254840009   Inflammatory carcinoma of breast

271719001   Raised intracranial pressure
129623003   Iridocorneal endothelial syndrome
76345009    Islet cell adenoma
42681006    Islet cell hyperplasia
66149005    Islet cell hyperplasia
42681006    Islet cell hyperplasia
66149005    Islet cell hyperplasia
4325000     11q partial monosomy syndrome
A83.0       Japanese encephalitis
62          Japanese encephalitis
52947006    Japanese encephalitis virus disease
373905003   Jervell and Lange-Nielson syndrome
75049004    Jeune thoracic dystrophy
253175003   Familial aplasia of the vermis
128832006   Juvenile myelomonocytic leukemia
277587001   Juvenile chronic myeloid leukemia
6204001     Juvenile myoclonic epilepsy
M42.0       Juvenile osteochondrosis of spine
732         Juvenile osteochondrosis of spine
203361005   Juvenile osteochondritis of the spine, unspecified
203364002   Juvenile osteochondritis of the spine NOS
53406005    Juvenile osteochondrosis of spine
B55.0       Visceral leishmaniasis
85          Leishmaniasis visceral [kala-azar]
186803007   Visceral leishmaniasis
93559003    Hypogonadism with anosmia
C46.9       Kaposi's sarcoma, unspecified
C46         Kaposi's sarcoma
176.9       Kaposi's sarcoma, unspecified
176         Kaposi's sarcoma
109385007   Kaposi's sarcoma (clinical)
190112000   [X]Kaposi's sarcoma, unspecified
49937004    Kaposi's sarcoma
42402006    Kartagener syndrome
86204009    Polynesian bronchiectasis
M30.3       Mucocutaneous lymph node syndrome [Kawasaki]
446.1       Acute febrile mucocutaneous lymph node syndrome [MCLS]
195349001   Acute febrile mucocutaneous lymph node syndrome NOS
75053002    Acute febrile mucocutaneous lymph node syndrome
25792000    Kearns-Sayre syndrome
254662007   Keratoacanthoma
H18.6       Keratoconus
371.6       Keratoconus, unspecified
371.6       Keratoconus
193843006   Unspecified keratoconus
193846003   Keratoconus NOS
65636009    Keratoconus
P57.9       Kernicterus, unspecified
P57         Kernicterus
206479002   Kernicterus of newborn NOS
50143004    Kernicterus of newborn
74925009    Kernicterus
111488004   Kleine-Levin syndrome
Q98.0       Klinefelter's syndrome karyotype 47,XXY
Q98.4       Klinefelter's syndrome, unspecified
758.7       Klinefelter's syndrome
205701007   Klinefelter's syndrome NOS
405769009   Klinefelter's syndrome, XXY
Q98.0       Klinefelter's syndrome karyotype 47,XXY
Q98.4       Klinefelter's syndrome, unspecified
758.7       Klinefelter's syndrome
205701007   Klinefelter's syndrome NOS
405769009   Klinefelter's syndrome, XXY
59078009    Klippel-Trenaunay-Weber syndrome
10651001    Kl├╝ver-Bucy syndrome
69482004    Korsakoff's psychosis
189979005   Diffuse globoid body sclerosis
192782005   Galactosylceramide beta-galactosidase deficiency
359987004   Krukenberg tumor
94455000    Krukenburg tumor
230425004   Lafora disease
G73.1       Eaton-Lambert syndrome
56989000    Eaton-Lambert syndrome
Q80.2       Lamellar ichthyosis
205550003   Lamellar ichthyosis
267372009   Congenital non bullous ichthyosiform erythroderma
268245001   Lamellar desquamation of the newborn
F80.3       Acquired aphasia with epilepsy [Landau-Kleffner]
230438007   Acquired epileptic aphasia
128809007   Langerhans cell histiocytosis
190955000   Histiocytosis X syndrome
190956004   Histiocytosis X, unspecified
65399007    Langerhans cell histiocytosis
A53.0       Latent syphilis, unspecified as early or late
97.1        Latent syphilis, unspecified
186906003   Latent syphilis unspecified
78569004    Posterior inferior cerebellar artery syndrome
58610003    Leber's optic atrophy
238091006   Lecithin cholesterol acyltransferase deficiency
49227001    Phosphatidylcholine-sterol acyltransferase deficiency
29570005    Leigh's disease
189790006   [M]Leiomyosarcoma NOS
51549004    Leiomyosarcoma
B55.9       Leishmaniasis, unspecified
B55         Leishmaniasis
85.9        Leishmaniasis, unspecified
85          Leishmaniasis
186811002   Leishmaniasis NOS
187511000   [X]Leishmaniasis, unspecified
80612004    Leishmaniasis
230418006   Lennox-Gastaut syndrome
51603000    Cutis verticis gyrata
111306001   Multiple lentigines syndrome
403537000   Generalized lentiginosis
A30.9       Leprosy, unspecified
A30         Leprosy [Hansen's disease]
30.9        Leprosy, unspecified
30          Leprosy
186339006   Leprosy NOS
187316006   [X]Leprosy, unspecified
81004002    Leprosy
A27.9       Leptospirosis, unspecified
A27         Leptospirosis
100.9       Leptospirosis, unspecified
100         Leptospirosis
186959001   Leptospirosis NOS
187311001   [X]Leptospirosis, unspecified
77377001    Leptospirosis
93465000    Nanukayami
A27.9       Leptospirosis, unspecified
A27         Leptospirosis
100.9       Leptospirosis, unspecified
100         Leptospirosis
186959001   Leptospirosis NOS
187311001   [X]Leptospirosis, unspecified
77377001    Leptospirosis
93465000    Nanukayami
E79.1       Lesch-Nyhan syndrome
10406007    Lesch-Nyhan syndrome
124275001   Deficiency of hypoxanthine phosphoribosyltransferase
331.82      Dementia with Lewy bodies
312991009   Senile dementia of the Lewy body type
80098002    Diffuse Lewy body disease
331.82      Dementia with Lewy bodies
312991009   Senile dementia of the Lewy body type
80098002    Diffuse Lewy body disease
L90.0       Lichen sclerosus et atrophicus
25674000    Lichen sclerosus et atrophicus
71275003    Pseudoprimary aldosteronism
428850001   Li-Fraumeni syndrome
93153005    Limb-girdle muscular dystrophy
230192003   Limbic encephalitis
38692000    Lipid proteinosis
L94.0       Localized scleroderma [morphea]
701         Circumscribed scleroderma
201047002   Unspecified circumscribed scleroderma
201048007   Localized scleroderma
201052007   Circumscribed scleroderma NOS

D18.1       Lymphangioma, any site
228.1       Lymphangioma, any site
189875000   [M]Lymphangioma NOS
253057002   Benign lymphangioma
254836000   Congenital lymphangioma
400178008   Lymphangioma
69044001    Lymphangioma
93168006    Lymphangioma of unspecified site
73017001    Lymphangiomyomatosis
234097001   Lymphedema
30213001    Lymphatic edema
91952008    Azorean disease
25273001    Enlargement of tongue
264545007   Malakoplakia
50707001    Malakoplakia
B54         Unspecified malaria
84.6        Malaria, unspecified
84          Malaria
105649009   Disease due to Plasmodiidae
186797008   Unspecified malaria
187510004   [X]Unspecified malaria
248437004   Malarial fever
61462000    Malaria

239062001   Erythrokeratoderma en cocardes
400171002   Malignant atrophic papulosis
253040001   [M]Fibroxanthosarcoma
34360000    Fibrous histiocytoma, malignant

77418004    Neurilemoma, malignant
K22.6       Gastro-oesophageal laceration-haemorrhage syndrome
530.7       Gastroesophageal laceration-hemorrhage syndrome
307131005   Mallory-Weiss tear
35265002    Mallory-Weiss syndrome
B74.4       Mansonelliasis
240849009   Mansonelliasis
E71.0       Maple-syrup-urine disease
27718001    Maple syrup urine disease
A98.3       Marburg virus disease
77503002    Marburg virus disease
Q87.4       Marfan's syndrome
759.82      Marfan's syndrome
19346006    Marfan's syndrome
52677002    Deficiency of N-acetylgalactosamine-4-sulfatase
69463008    Maroteaux-Lamy syndrome
52677002    Deficiency of N-acetylgalactosamine-4-sulfatase
69463008    Maroteaux-Lamy syndrome
C94.3       Mast cell leukaemia
110002002   Mast cell leukemia (clinical)
128924002   Mast cell leukemia
753.17      Medullary sponge kidney
236443009   Medullary sponge kidney
82525005    Sponge kidney
189921005   [M]Medulloblastoma NOS
83217000    Medulloblastoma
371.51      Juvenile epithelial corneal dystrophy
1674008     Meesman's corneal dystrophy
191166001   [X]Megaloblastic anemia NOS
234357005   Megaloblastic anemia NOS
53165003    Megaloblastic anemia
39925003    Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
G51.2       Melkersson's syndrome
215617000   Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal
37770007    Melkersson's syndrome
44697002    Melorheostosis
A17.0       Tuberculous meningitis
13          Tuberculous meningitis, unspecified examination
13          Tuberculous meningitis
186215003   Tuberculous meningitis NOS
58437007    Tuberculosis of meninges
59178007    Menkes kinky-hair syndrome
59178007    Menkes kinky-hair syndrome
230426003   Myoclonic epilepsy - ragged red fibers
57254004    Fukuhara syndrome
68448003    Myoclonus epilepsy AND ragged red fibers
277.7       Dysmetabolic syndrome X
237602007   Metabolic syndrome X
238031009   Arylsulfatase A deficiency
396338004   Metachromatic leukodystrophy
44359008    Scholz cerebral sclerosis
66521008    Deficiency of cerebroside-sulfatase
41797007    5,10-Methylenetetrahydrofolate reductase deficiency
124327008   Deficiency of mevalonate kinase

61842000    Infection by Microsporida
65883009    Infection by Microspora

398021003   Connective tissue disease overlap syndrome
398049005   Mixed collagen vascular disease
89444000    Oromandibular-limb hypogenesis spectrum
69488000    Beaded hair
378007      Morquio syndrome
I67.5       Moyamoya disease
437.5       Moyamoya disease
69116000    Moyamoya disease
89142007    Progressive intracranial arterial occlusion
70528007    Mucolipidosis
111384001   Ganglioside sialidase deficiency
E76.0       Mucopolysaccharidosis, type I
75610003    Mucopolysaccharidosis, MPS-I
41572006    Mucopolysaccharidosis, MPS-III-A
59990008    Mucopolysaccharidosis, MPS-III-B
75238000    Mucopolysaccharidosis, MPS-III-C
15892005    Mucopolysaccharidosis, MPS-III-D

238044004   Mucopolysaccharidosis, MPS-IV-B

403824007   Torré-Muir syndrome
81604003    Mulibrey nanism syndrome
F01.1       Multi-infarct dementia
56267009    Multi-infarct dementia
22886006    Glutaric aciduria, type 2
46724008    Familial polyendocrine adenomatosis
60549007    Multiple endocrine adenomas
258.01      Multiple endocrine neoplasia [MEN] type I
30664006    Multiple endocrine neoplasia, type 1
258.02      Multiple endocrine neoplasia [MEN] type IIA
61808009    Multiple endocrine neoplasia, type 2
61530001    Multiple endocrine neoplasia, type 3
134170006   [M]Osteochondromatosis NOS
66467005    Osteochondromatosis
54898003    Multiple sulfatase deficiency
230297002   Multiple system atrophy
G71.0       Muscular dystrophy
359.1       Hereditary progressive muscular dystrophy
193225000   Hereditary progressive muscular dystrophy
193236007   Hereditary progressive muscular dystrophy NOS
73297009    Muscular dystrophy
C84.0       Mycosis fungoides
202.1       Mycosis fungoides
118618005   Mycosis fungoides (clinical)
188618003   Mycosis fungoides of unspecified site
188628007   Mycosis fungoides NOS
190004005   [M]Mycosis fungoides NOS
90120004    Mycosis fungoides
D46.9       Myelodysplastic syndrome, unspecified
D46         Myelodysplastic syndromes
238.75      Myelodysplastic syndrome, unspecified
109995007   Myelodysplastic syndrome (clinical)
128623006   Myelodysplastic syndrome
188736006   Smoldering leukemia
190229005   [X]Myelodysplastic syndrome, unspecified
C92.3       Myeloid sarcoma
205.3       Myeloid sarcoma
188737002   Chloroma
188738007   Granulocytic sarcoma
188739004   Myeloid sarcoma NOS
35287006    Myeloid sarcoma
94719007    Myeloid sarcoma
27678003    Myokymia
M60.9       Myositis, unspecified
M60         Myositis
128496001   Inflammatory disorder of muscle
203110007   Myositis unspecified
26889001    Myositis
44551007    Muscular ossification
359.22      Myotonia congenita
57938005    Congenital myotonia, autosomal dominant form
G71.1       Myotonic disorders
359.2       Myotonic disorders
193237003   Myotonic disorder
193240003   Myotonic disorder NOS
77956009    Steinert myotonic dystrophy syndrome
22199006    Nail-patella syndrome
347         Narcolepsy
60380001    Narcolepsy
M31.2       Lethal midline granuloma
446.3       Lethal midline granuloma
58961005    Lethal midline granuloma
126680004   Neoplasm of nasopharynx
P77         Necrotizing enterocolitis of fetus and newborn
206525008   Neonatal necrotizing enterocolitis
2707005     Necrotizing enterocolitis in fetus OR newborn
397729009   Perinatal necrotizing enterocolitis
728.86      Necrotizing fasciitis
52486002    Necrotizing fasciitis
A69.0       Necrotizing ulcerative stomatitis
172697005   Acute ulcerative gingivitis
173599005   Acute necrotizing ulcerative gingivostomatitis
240675006   Vincent's infection
399050001   Acute necrotizing ulcerative gingivitis
E24.1       Nelson's syndrome
43019009    Nelson syndrome
P22.0       Respiratory distress syndrome of newborn
P22.9       Respiratory distress of newborn, unspecified
P22         Respiratory distress of newborn
769         Respiratory distress syndrome in newborn
46775006    Respiratory distress syndrome in the newborn
253008000   Apudoma
74926005    Apudoma
48638002    Nephrocalcinosis
N25.1       Nephrogenic diabetes insipidus
588.1       Nephrogenic diabetes insipidus
111395007   Nephrogenic diabetes insipidus
424114000   Nephrogenic systemic fibrosis
312514006   Netherton's syndrome
34638006    Lamellar ichthyosis AND trichorrhexis invaginata syndrome
54336006    Ichthyosis linearis circumflexa
Q05.9       Spina bifida, unspecified
Q05         Spina bifida
741         Spina bifida
204017003   Spina bifida NOS
67531005    Spina bifida
Q05.9       Spina bifida, unspecified
Q05          Spina bifida
741          Spina bifida
204017003    Spina bifida NOS
67531005     Spina bifida
26848004     Chorea acanthocytosis syndrome
66881004     Choreoacanthocytosis
269507008    [M]Neuroblastoma NOS
432328008    Neuroblastoma
87364003     Neuroblastoma
B69.0        Cysticercosis of central nervous system
187148002    Cysticercosis of central nervous system
230215006    Cerebral cysticercosis
253001006    Merkel cell carcinoma
254729005    Apudoma of skin
5052009      Merkel cell carcinoma
209-209.99   NEUROENDOCRINE TUMORS
209          Neuroendocrine tumors
128928004    Neuroendocrine neoplasm
255046005    Neuroendocrine tumor
115242003    [M]Neurofibromas
189947001    [M]Neurofibroma NOS
404029005    Neurofibroma
89084002     Neurofibroma
237.7        Neurofibromatosis, unspecified
237.7        Neurofibromatosis
19133005     Neurofibromatosis syndrome
81669005     Neurofibromatosis
237.71       Neurofibromatosis, type 1 [von Recklinghausen's disease]
81669005     Recklinghausen's disease (except of Bone)
92824003     Neurofibromatosis, type 1
237.71       Neurofibromatosis, type 1 [von Recklinghausen's disease]
81669005     Recklinghausen's disease (except of Bone)
92824003     Neurofibromatosis, type 1
237.72       Neurofibromatosis, type 2 [acoustic neurofibromatosis]
92503002     Neurofibromatosis, type 2
237.72       Neurofibromatosis, type 2 [acoustic neurofibromatosis]
92503002     Neurofibromatosis, type 2
45369008     Neurohypophyseal diabetes insipidus
G36.0        Neuromyelitis optica [Devic]
341          Neuromyelitis optica
25044007     Neuromyelitis optica
E75.4        Neuronal ceroid lipofuscinosis
42012007     Neuronal ceroid lipofuscinosis
A52.3        Neurosyphilis, unspecified
94.9         Neurosyphilis, unspecified
94           Neurosyphilis
186895005    Neurosyphilis NOS
187356008   [X]Neurosyphilis, unspecified
26039008    Neurosyphilis
19466003    Neurotoxicity
58459009    Sphingomyelin/cholesterol lipidosis
66751000    Niemann-Pick disease, type C
H53.6       Night blindness
368.6       Night blindness, unspecified
368.6       Night blindness
193686009   Unspecified night blindness
193693008   Night blindness NOS
65194006    Night blindness
234638009   Microcephaly, normal intelligence and immunodeficiency
528.1       Cancrum oris
18116006    Cancrum oris
399050001   Gangrenous stomatitis
254637007   Non-small cell lung cancer

205684007   Turner's phenotype, karyotype normal
205824006   Noonan's syndrome
410042009   Ochronosis
314757003   Ocular cicatricial pemphigoid
79385002    Lowe syndrome
63844009    Oculocutaneous albinism

189920006   [M]Oligodendroglioma NOS
73348003    Oligodendroglioma
67761004    Olivopontocerebellar degeneration
230350000   Opsoclonus-myoclonus syndrome
H47.2       Optic atrophy
377.1       Optic atrophy, unspecified
377.1       Optic atrophy
194042009   Unspecified optic atrophy
194046007   Optic atrophy NOS
76976005    Optic atrophy
H46         Optic neuritis
377.3       Optic neuritis, unspecified
377.3       Optic neuritis
194052008   Unspecified optic neuritis
194054009   Optic neuritis NOS
66760008    Optic neuritis
239112008   Epidermal nevus syndrome
52298009    Linear sebaceous nevus sequence

80908008    Ornithine carbamoyltransferase deficiency

I95.1       Orthostatic hypotension
458         Orthostatic hypotension
28651003    Orthostatic hypotension

90448008    Ossification of posterior longitudinal ligament
Q78.9       Osteochondrodysplasia, unspecified
105985007   Osteochondrodysplasia syndrome
240190009   Osteochondrodysplasia
Q78.0       Osteogenesis imperfecta
756.51      Osteogenesis imperfecta
205498009   Osteogenesis imperfecta NOS
78314001    Osteogenesis imperfecta
268.2       Osteomalacia, unspecified
190642003   Osteomalacia unspecified
4598005     Osteomalacia
756.53      Osteopoikilosis
9147009     Osteopoikilosis
21708004    Osteosarcoma
39427000    Pachyonychia congenita syndrome

2985005     Paget's disease, mammary
404119000   Pagetoid reticulosis
419386004   Pagetoid reticulosis
90120004    Pagetoid reticulosis
56677004    Pallister-Hall syndrome
M72.0       Palmar fascial fibromatosis [Dupuytren]
728.6       Contracture of palmar fascia
203045001   Dupuytren's disease of palm
203047009   Dupuytren's disease of palm, with contracture
274142002   Dupuytren's contracture
410813000   Contracture of palmar fascia
L85.2       Keratosis punctata (palmaris et plantaris)
134154009   [M]Insulinoma NOS
25324008    Insulinoma
302822000   Insulinoma
157.4       Malignant neoplasm of islets of Langerhans
187794005   Malignant tumor of Islets of Langerhans
254612002   Carcinoma of endocrine pancreas
60346004    Islet cell carcinoma

360.12      Panuveitis
75614007    Panuveitis
189687009   [M]Papillary cystadenocarcinoma, NOS
2735009     Papillary cystadenocarcinoma
H47.1       Papilloedema, unspecified
377         Papilledema, unspecified
377         Papilledema
194038006   Unspecified papilledema
194041002   Papilledema NOS
248487006   Optic disc edema
423341008   Optic disc edema
40158001    Papillon-Lefèvre syndrome
B41.9       Paracoccidioidomycosis, unspecified
B41         Paracoccidioidomycosis
116.1       Paracoccidioidomycosis
187074005   Paracoccidioidomycosis NOS
187486002   [X]Paracoccidioidomycosis, unspecified
36866003    Mucocutaneous-lymphangitic paracoccidioidomycosis
59925007    Paracoccidioidomycosis
127027008   Neoplasm of paraganglion
189743009   [M]Paraganglioma NOS
253029009   Gangliocytic paraganglioma
302833002   Paraganglioma
72787006    Gangliocytic paraganglioma
803009      Paraganglioma
B66.4       Paragonimiasis
121.2       Paragonimiasis
30369007    Infection by Paragonimus
192877007   Paraneoplastic cerebellar degeneration
G82.2       Paraplegia, unspecified
344.1       Paraplegia
60389000    Paraplegia
L41.9       Parapsoriasis, unspecified
L41         Parapsoriasis
696.2       Parapsoriasis
200980003   Parapsoriasis unspecified
200991005   Parapsoriasis NOS
88233000    Parapsoriasis
G20         Parkinson's disease
332         Paralysis agitans
332         Parkinson's disease
192831003   Parkinson's disease NOS
49049000    Parkinson's disease
D59.5       Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli]
1963002     Paroxysmal nocturnal hemoglobinuria
H30.2       Posterior cyclitis
363.21      Pars planitis
314428001   Posterior cyclitis
45688009    Pars planitis
Q25.0       Patent ductus arteriosus
747         Patent ductus arteriosus
83330001    Patent ductus arteriosus
85559002    Pelger-Huët anomaly
64855000    Pelizaeus-Merzbacher disease
O26.4       Herpes gestationis
199126002   Herpes gestationis unspecified
199131000   Herpes gestationis NOS
86081009    Herpes gestationis
L10.9       Pemphigus, unspecified
L10         Pemphigus
694.4       Pemphigus
200908008   Pemphigus NOS
65172003    Pemphigus
607.85      Peyronie's disease
1335005     Induratio penis plastica
81634008    Perineurial cyst

277.86      Peroxisomal disorders
238059005   Disorder of peroxisomal function
P29.3       Persistent fetal circulation
747.83      Persistent fetal circulation
206597007   Persistent fetal circulation
233815004   Persistent pulmonary hypertension of the newborn
35604006    Persistent fetal circulation syndrome
M91.2       Coxa plana
M91.3       Pseudocoxalgia
111255008   Avascular necrosis of the capital femoral epiphysis
15739006    Juvenile osteochondritis of hip AND/OR pelvis
240241003   Coxa plana
G40.7       Petit mal, unspecified, without grand mal seizures
230413002   Juvenile absence epilepsy
50866000    Childhood absence epilepsy
79631006    Absence seizure
54411001    Peutz-Jeghers syndrome
E70.0       Classical phenylketonuria
270.1       Phenylketonuria [PKU]
7573000     Classical phenylketonuria
302835009   Pheochromocytoma
85583005    Pheochromocytoma
F02.0       Dementia in Pick's disease
331.11      Pick's disease
13092008    Pick's disease
192174003   [X]Dementia in Pick's disease
6479008     Partial albinism
4602007     Robin sequence
274901004   Pilomatrixoma
44155009    Pilomatrixoma

A67.9       Pinta, unspecified
A67         Pinta [carate]
103.9       Pinta, unspecified
103         Pinta
186976002   Pinta NOS
187373005   [X]Pinta, unspecified
22064009    Pinta

10057001    Parapsoriasis en gouttes
200983001   Pityriasis lichenoides
L44.0       Pityriasis rubra pilaris
696.4       Pityriasis rubra pilaris
3755001     Pityriasis rubra pilaris
A20.9       Plague, unspecified
A20         Plague
20.9        Plague, unspecified
20          Plague
186290009   Plague unspecified
58750007    Plague
C90.1       Plasma cell leukaemia
203.1       Plasma cell leukemia
128922003   Plasma cell leukemia
190038002   [M]Plasma cell leukemias
190039005   [M]Plasma cell leukemia NOS
95210003    Plasma cell leukemia
C90.0       Multiple myeloma
203         Multiple myeloma
109989006   Multiple myeloma
55921005    Multiple myeloma
10639003    Plasmacytoma
190016004   [M]Plasma cell tumors
190019006   [M]Plasma cell tumor NOS
308122007   Plasmacytoma NOS
415112005   Plasmacytoma
D50.1       Sideropenic dysphagia
80126007    Plummer-Vinson syndrome
J64         Unspecified pneumoconiosis
505         Pneumoconiosis, unspecified
196016006   Pneumoconiosis NOS
40122008    Pneumoconiosis
79268002    POEMS syndrome
38371006    Poland anomaly
Q61.3       Polycystic kidney, unspecified
753.12      Polycystic kidney, unspecified type
268233005   Polycystic kidney disease NOS
82525005    PCK - Polycystic kidney disease
D45         Polycythaemia vera
238.4       Polycythemia vera
109992005   Polycythemia vera (clinical)
128841001   Polycythemia vera
134182002   [M]Polycythemia vera
M35.3       Polymyalgia rheumatica
725         Polymyalgia rheumatica
65323003    Polymyalgia rheumatica
M33.2       Polymyositis
710.4       Polymyositis
31384009    Polymyositis
Q78.1       Polyostotic fibrous dysplasia
756.54      Polyostotic fibrous dysplasia of bone
36517007    Polyostotic fibrous dysplasia of bone
400080004   Porokeratosis
80432009    Porokeratosis
371073003   Postural orthostatic tachycardia syndrome
759.81      Prader-Willi syndrome
89392001    Prader-Willi syndrome
E30.1       Precocious puberty
123527003   Precocious sexual development
400179000   Precocious puberty

I45.6       Pre-excitation syndrome
195060002   Ventricular pre-excitation
267307002   Hypertension of pregnancy NOS
308551004   Gestational hypertension
48194001    Pregnancy-induced hypertension
N48.3       Priapism
607.3       Priapism
6273006     Priapism
128800006   Primary effusion lymphoma
E21.0       Primary hyperparathyroidism
252.01      Primary hyperparathyroidism
36348003    Primary hyperparathyroidism
L62.0       Clubbed nail pachydermoperiostosis
223726008   Pachydermoperiostosis of nail
88220006    Pachydermoperiostosis syndrome



197441003   Primary sclerosing cholangitis
238870004   Hutchinson-Gilford syndrome
238870004   Hutchinson-Gilford syndrome
335.22      Progressive bulbar palsy
54304004    Progressive bulbar palsy
A81.2       Progressive multifocal leukoencephalopathy
46.3        Progressive multifocal leukoencephalopathy
22255007    Progressive multifocal leukoencephalopathy
335.21      Progressive muscular atrophy
88923002    Progressive muscular atrophy
267581004   Progressive myoclonic epilepsy
G23.1       Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski]
28978003    Progressive supranuclear ophthalmoplegia
360994007   Deficiency of prolidase
361010007   Deficiency of proline dipeptidase
124718009   Deficiency of propionyl-CoA carboxylase
69080001    Propionic acidemia
18358003    Prosopagnosia
23150001    Proteus syndrome
Q79.4       Prune belly syndrome
756.71      Prune belly syndrome
5187006     Prune belly syndrome
77098009    Pseudohypoaldosteronism
112679004   Pseudomyxoma peritonei
307601000   Pseudomyxoma peritonei
G93.2       Benign intracranial hypertension
348.2       Benign intracranial hypertension
68267002    Benign intracranial hypertension
239140003   Pseudoxanthoma elasticum
252246005   Pseudoxanthoma elasticum
516         Pulmonary alveolar proteinosis
10501004    Pulmonary alveolar proteinosis
43149009    Pulmonary blastoma
51615001    Fibrosis of lung
70995007    Pulmonary hypertension
D86.0       Sarcoidosis of lung
24369008    Pulmonary sarcoidosis
89420002    Pulmonary veno-occlusive disease
87694001    Pyruvate carboxylase deficiency
A77.3       Spotted fever due to Rickettsia australis
A78         Q fever
82.3        Queensland tick typhus
83          Q fever
186788009   Q fever
68981009    Queensland tick typhus
A82.9       Rabies, unspecified
A82         Rabies
71          Rabies
14168008    Rabies
187393002   [X]Rabies, unspecified
79745005    Reflex epilepsy
337.2       Reflex sympathetic dystrophy, unspecified
337.2       Reflex sympathetic dystrophy
128079007   Complex regional pain syndrome, type I
15743005    Sudeck's atrophy
50642008    CRPS - Complex regional pain syndrome type I
G60.1       Refsum's disease
356.3       Refsum's disease
25362006    Phytanic acid storage disease
254915003   Carcinoma of kidney
41607009    Renal cell carcinoma
126880001   Neoplasm of kidney
1776003     Renal tubular acidosis
I15.0       Renovascular hypertension
123799005   Renovascular hypertension
194790006   Secondary renovascular hypertension NOS
333.94      Restless legs syndrome (RLS)
32914008    Restless legs
127002001   Neoplasm of retina
28835009    Retinitis pigmentosa
189934006   [M]Retinoblastomas
189935007   [M]Retinoblastoma NOS
19906005    Retinoblastoma
370967009   Retinoblastoma
361.1       Retinoschisis, unspecified
193330003   Retinoschisis unspecified
44268007    Retinoschisis
H35.1       Retinopathy of prematurity
362.21      Retrolental fibroplasia
415297005   Retinopathy of prematurity
49120005    Retroperitoneal fibrosis
F84.2       Rett's syndrome
68618008    Rett's disorder
G93.7       Reye's syndrome
331.81      Reye's syndrome
74351001    Reye's syndrome
58718002    Rheumatic fever
81077008    Acute rheumatic arthritis
56692003    Rhizomelic chondrodysplasia punctata syndrome
76520005    Robinow syndrome
20852007    Romano-Ward syndrome
23041001    Sinus histiocytosis
34287003    Sinus histiocytosis with massive lymphadenopathy
69093006    Rothmund-Thomson syndrome
B06         Rubella [German measles]
56          Rubella
36653000    Rubella
45582004    Rubinstein-Taybi syndrome
23849003    Sandhoff disease
D86.9       Sarcoidosis, unspecified
D86         Sarcoidosis
135         Sarcoidosis
31541009    Sarcoidosis
189764008   [M]Sarcoma NOS
2424003     Sarcoma
424413001   Sarcoma
424952003   Sarcoma of soft tissue
73123008    Mucopolysaccharidosis, MPS-I-S
73123008    Mucopolysaccharidosis, MPS-I-S
B65.9       Schistosomiasis, unspecified
B65         Schistosomiasis [bilharziasis]
120.9       Schistosomiasis, unspecified
120         Schistosomiasis [bilharziasis]
10087007    Infection by Schistosoma
105661001   Disease due to Schistosomatidae
187122005   Schistosomiasis NOS
187520009   [X]Schistosomiasis, unspecified
39905002    Scimitar syndrome
95323007    Scleredema
201441006   Scleroderma
287005009   Scleroderma NOS
89155008    Scleroderma
111197009   Lichen myxedematosus
402468007   Scleromyxedema
37821003    Sea-blue histiocyte syndrome
L82         Seborrhoeic keratosis
702.1       Seborrheic keratosis
201097003   Senile keratoma
25499005    Seborrheic keratosis
394727000   Pigmented basal cell papilloma
398838000   Senile hyperkeratosis
50563003    Senile wart
856006      Senile keratoma

189840000   [M]Seminomas
189841001   [M]Seminoma NOS
36741007    Seminoma
Q04.4       Septo-optic dysplasia
7611002     Septo-optic dysplasia sequence
79.82       SARS-associated coronavirus
398447004   Severe acute respiratory syndrome
31323000    Severe combined immunodeficiency disease
115221000   Specialized gonadal neoplasm
189724009   [M]Specialized gonadal neoplasms
189741006   [M]Specialized gonadal neoplasm NOS
253028001   Sex cord stromal tumor
71440001    Sex cord-stromal tumor
C84.1       Sezary's disease
202.2       Sezary's disease
118611004   Sézary's disease (clinical)
188629004   Sézary's disease of unspecified site
188638002   Sézary's disease NOS
4950009     Sezary syndrome
205484001   Short rib polydactyly syndrome
16576004    Shy-Drager syndrome
238051008   Sialuria
K11.2       Sialoadenitis
527.2       Sialoadenitis
196490009   Sialoadenitis NOS
42982001    Sialoadenitis
D57         Sickle-cell disorders
282.6       Sickle-cell disease, unspecified
282.6       Sickle-cell disease
127040003   Hb SS disease
191195005   Sickle cell anemia of unspecified type
191199004   Sickle cell anemia NOS
417357006   Sickling disorder due to hemoglobin S
15069006    Russell-Silver syndrome

M35.0       Sicca syndrome [Sjogren]
83901003    Sj├╢gren's syndrome
111303009   Sj├╢gren-Larsson syndrome
L81.9       Disorder of pigmentation, unspecified
709         Dyschromia, unspecified
709         Dyschromia
201293006   Dyschromia NOS
414032001   Disorder of pigmentation
46690002    Disorder of skin pigmentation
79644001    Pigment alteration
124470009   Deficiency of beta-glucuronidase
43916004    Mucopolysaccharidosis, MPS-VII
43929004    Smith-Lemli-Opitz syndrome
G24.3       Spasmodic torticollis
333.83      Spasmodic torticollis
74333002    Spasmodic torticollis

17235000    Spherocytosis
G12.9       Spinal muscular atrophy, unspecified
335.1       Spinal muscular atrophy, unspecified
335.1       Spinal muscular atrophy
192885003   Unspecified spinal muscular atrophy
192887006   Spinal muscular atrophy NOS
5262007     Spinal muscular atrophy

129609000   Spinocerebellar ataxia
129609000   Spinocerebellar ataxia
L00         Staphylococcal scalded skin syndrome
695.81      Ritter's disease
200946001   Staphylococcal scalded skin syndrome
47673003    Fundus flavimaculatus
70099003    Stargardt's disease
G41.9       Status epilepticus, unspecified
G41         Status epilepticus
13973009    Status epilepticus
194499008   [X]Status epilepticus, unspecified
230456007   Status epilepticus
L51.1       Bullous erythema multiforme
695.12      Erythema multiforme major
695.13      Stevens-Johnson syndrome
73442001    Stevens-Johnson syndrome
333.91      Stiff-man syndrome
5217008     Stiff-man syndrome
19886006    Sturge-Weber sequence
234143003   Parkes Weber syndrome
A81.1       Subacute sclerosing panencephalitis
46.2        Subacute sclerosing panencephalitis
192685000   Subacute sclerosing panencephalitis
359686005   Van Bogaert's sclerosing leukoencephalitis
416154000   Measles inclusion body encephalitis

4553004     Subependymal glioma

R95         Sudden infant death syndrome
798         Sudden infant death syndrome
207534005   [D]Sudden infant death syndrome
207535006   [D]Cot death
207536007   [D]Crib death
207538008   [D]Sudden infant death syndrome NOS
51178009    Sudden infant death syndrome

197006009   Superior mesenteric artery syndrome
24988007    Superior mesenteric artery syndrome
63363004    Superior vena cava syndrome
268185002   Supravalvar aortic stenosis
L98.2       Febrile neutrophilic dermatosis [Sweet]
84625002    Acute febrile neutrophilic dermatosis
J43.0       MacLeod's syndrome
45145000    Unilateral emphysema
A53.9       Syphilis, unspecified
97.9        Syphilis, unspecified
186907007   Syphilis NOS
187359001   [X]Syphilis, unspecified
76272004    Syphilis
111496009   Syringomyelia
397016004   Systemic mast cell disease
50150000    Systemic tissue mast cell disease
M34.0       Progressive systemic sclerosis
M34.9       Systemic sclerosis, unspecified
M34         Systemic sclerosis
710.1       Systemic sclerosis
89155008    Systemic sclerosis
M34.0       Progressive systemic sclerosis
M34.9       Systemic sclerosis, unspecified
M34         Systemic sclerosis
710.1       Systemic sclerosis
89155008    Systemic sclerosis
M34.0       Progressive systemic sclerosis
M34.9       Systemic sclerosis, unspecified
M34         Systemic sclerosis
710.1       Systemic sclerosis
89155008    Systemic sclerosis
94          Tabes dorsalis
315826004   Tabetic neurosyphilis
316841006   Tabes dorsalis
51928006    Tabes dorsalis - neurosyphilis
B68.9       Taeniasis, unspecified
B68         Taeniasis
123.3       Taeniasis, unspecified
187150005   Unspecified teniasis
187525004   [X]Taeniasis, unspecified
76172008    Infection by Taenia
M31.4       Aortic arch syndrome [Takayasu]
446.7       Takayasu's disease
239937004   Idiopathic aortitis
359789008   Takayasu's disease
429.83      Takotsubo syndrome
15346004    Familial hypoalphalipoproteinemia
G57.5       Tarsal tunnel syndrome
355.5       Tarsal tunnel syndrome
47374004    Tarsal tunnel syndrome
111385000   Tay-Sachs disease

446.5       Giant cell arteritis
195357003   Giant cell arteritis NOS
400130008   Temporal arteritis
414341000   Giant cell arteritis
E34.5       Androgen resistance syndrome
259.51      Androgen insensitivity syndrome
259.5       Androgen insensitivity syndrome
12313004    Androgen resistance syndrome
52832001    Testicular feminization
126900000   Neoplasm of testis
37          Tetanus
276202003   Infection due to Clostridium tetani
76902006    Tetanus
Q21.3       Tetralogy of Fallot
745.2       Tetralogy of Fallot
204307003   Tetralogy of Fallot NOS
268177006   Tetralogy of Fallot, unspecified
86299006    Tetralogy of Fallot

D56.9       Thalassaemia, unspecified
D56         Thalassaemia
282.4       Thalassemias
267521001   Thalassemia NOS
40108008    Thalassemia
84188003    Thalassemia syndrome
26682008    Homozygous beta thalassemia
75451007    Thalassemia major

128210009   Thoracic outlet syndrome
D69.6       Thrombocytopenia, unspecified
287.5       Thrombocytopenia, unspecified
191326009   Thrombocytopenia NOS
302215000   Thrombocytopenic disorder
415116008   Platelet count below reference range
446.6       Thrombotic microangiopathy
78129009    Thrombotic thrombocytopenic purpura
39462005    Thyroglossal duct cyst

111567006   Refetoff syndrome
237559000   Thyroid hormone resistance syndrome
237560005   Generalized thyroid hormone resistance
50375007    Thyroid hormone responsiveness defect
33947007    Disease due to Togaviridae
95794005    Tolosa-Hunt syndrome
F95.2       Combined vocal and multiple motor tic disorder [de la Tourette]
307.23      Tourette's disorder
5158005     Gilles de la Tourette's syndrome

L51.2       Toxic epidermal necrolysis [Lyell]
695.15      Toxic epidermal necrolysis
23067006    Lyell's toxic epidermal necrolysis, subepidermal type
367537006   Toxic epidermal necrolysis, subcorneal type
128         Toxocariasis
406619001   Infection due to toxocara
416212005   Infection due to Toxascaris
233788001   Tracheobronchomalacia
57451009    Congenital tracheobronchomegaly
530.84      Tracheoesophageal fistula
95435007    Tracheoesophageal fistula
G45.4       Transient global amnesia
437.7        Transient global amnesia
230736007    Transient global amnesia
Q75.4        Mandibulofacial dysostosis
82203000     Treacher Collins syndrome
76272004     Treponemal disease
B75          Trichinellosis
124          Trichinosis
88264003     Infection by larvae of Trichinella spiralis
41069008     Langer-Giedion syndrome
403796005    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
63042009     Congenital atresia of tricuspid valve
M65.3        Trigger finger
727.03       Trigger finger (acquired)
1539003      Acquired trigger finger
66651005     Triploidy syndrome
87866006     Trismus
205653005    Trisomy 12
Q91.3        Edwards' syndrome, unspecified
758.2        Edwards' syndrome
254265001    Edward's syndrome NOS
51500006     Complete trisomy 18 syndrome
205649008    Trisomy 8
205650008    Trisomy 9
115234004    Trophoblastic neoplasm
189855009    [M]Trophoblastic neoplasms
189858006    [M]Trophoblastic neoplasm NOS
18978002     Ovotestis
A15-A19.9    Tuberculosis
010-018.99   TUBERCULOSIS
186282009    Tuberculosis NOS
371569005    Tuberculous
373576009    Infection due to Mycobacterium tuberculosis
56717001     Tuberculosis
Q85.1        Tuberous sclerosis
759.5        Tuberous sclerosis
7199000      Tuberous sclerosis syndrome
A21.9        Tularaemia, unspecified
A21          Tularaemia
21.9         Unspecified tularemia
21           Tularemia
186300002    Tularemia NOS
187300009    [X]Tularemia, unspecified
19265001     Tularemia
Q96.0        Karyotype 45,X
Q96.9        Turner's syndrome, unspecified
Q96          Turner's syndrome
268299006    Turner's syndrome NOS
38804009    Turner syndrome



17234001    Allantoic cyst
78745000    Urticaria pigmentosa
57838006    Retinitis pigmentosa-deafness syndrome
363.22      Harada's disease
364.24      Vogt-Koyanagi syndrome
193497004   Vogt-Koyanagi-Harada disease
44923005    Vogt-Koyanagi syndrome
47230004    Harada's disease
126921000   Neoplasm of vagina
413.1       Prinzmetal angina
87343002    Prinzmetal angina
58275005    Variegate porphyria
F01.9       Vascular dementia, unspecified
F01         Vascular dementia
290.4       Vascular dementia
192171006   [X]Vascular dementia, unspecified
429998004   Vascular dementia
56267009    VAD - Vascular dementia
253005002   Vasoactive intestinal peptide-secreting tumor
B83.0       Visceral larva migrans
B83.0       Visceral larva migrans
E50.9       Vitamin A deficiency, unspecified
E50         Vitamin A deficiency
264.9       Unspecified vitamin A deficiency
264         Vitamin A deficiency
190623002   Hypovitaminosis A NOS
72000004    Vitamin A deficiency
266.1       Vitamin B6 deficiency
386080007   Vitamin B6 deficiency
46659004    Von Hippel-Lindau syndrome
D68.0       Von Willebrand's disease
286.4       von Willebrand's disease
128105004   von Willebrand disorder
128108002   von Willebrand disease type 3
47434006    Waardenburg's syndrome

36161006    Wallerian degeneration
191384005   Wandering spleen

M31.3       Wegener's granulomatosis
446.4       Wegener's granulomatosis
195353004   Wegener's granulomatosis
239934006   Wegener's syndrome
205801004   Marchesani syndrome
2884008     Weill-Marchesani syndrome
69482004    Wernicke-Korsakov syndrome
345.6       Infantile spasms
193016000   Infantile spasms NOS
28055006    West syndrome
A83.1       Western equine encephalitis
62.1        Western equine encephalitis
47523006    Western equine encephalitis
40.2        Whipple's disease
41545003    Whipple's disease
A37.0       Whooping cough due to Bordetella pertussis
33          Whooping cough due to bordetella pertussis [B. pertussis]
27836007    Pertussis
63247009    Williams syndrome
63247009    Williams syndrome

4135001     11p partial monosomy syndrome
D82.0       Wiskott-Aldrich syndrome
279.12      Wiskott-Aldrich syndrome
36070007    Wiskott-Aldrich syndrome
74390002    Wolff-Parkinson-White pattern

70694009    Diabetes mellitus AND insipidus with optic atrophy AND deafness
238074007   Xanthomatosis, familial
82500001    Wolman's disease
Q82.1       Xeroderma pigmentosum
44600005    Xeroderma pigmentosum
372.53      Conjunctival xerosis
363677007   Xerophthalmia
64718006    Conjunctival xerosis
230253001   Bulbospinal muscular atrophy
82236004    Familial x-linked hypophosphatemic vitamin D refractory rickets
Q80.1       X-linked ichthyosis
3944006     Placental sulfatase deficiency
402771003   X-linked recessive ichthyosis
72523005    X-linked ichthyosis with steryl-sulfatase deficiency
Q80.1       X-linked ichthyosis
3944006     Placental sulfatase deficiency
402771003   X-linked recessive ichthyosis
72523005    X-linked ichthyosis with steryl-sulfatase deficiency
203592006   X-linked severe combined immunodeficiency



Q98.5       Karyotype 47,XYY
50749006    Double Y syndrome
Q98.5       Karyotype 47,XYY
50749006    Double Y syndrome
A66.9       Yaws, unspecified
A66         Yaws
102.9       Yaws, unspecified
102         Yaws
186974004   Unspecified yaws
187372000   [X]Yaws, unspecified
70647001    Yaws
A95.9       Yellow fever, unspecified
A95         Yellow fever
60.9        Yellow fever, unspecified
60          Yellow fever
16541001    Yellow fever
186587002   Yellow fever unspecified
187411002   [X]Yellow fever, unspecified
L60.5       Yellow nail syndrome
400211001   Hereditary lymphedema and yellow nails
45342007    Yellow nails
404081005   Yolk sac tumor
74409009    Endodermal sinus tumor
88469006    Zellweger syndrome
53132006    Zollinger-Ellison syndrome
B46.9       Zygomycosis, unspecified
B46         Zygomycosis
117.7       Zygomycosis [Phycomycosis or Mucormycosis]
187496006   [X]Zygomycosis, unspecified
59277005    Zygomycosis

77012006    Amniotic fluid
57259009    Gallbladder bile
70150004    Bile
14016003    Bone marrow structure
279729006   All bone marrow
258607008   Bronchoalveolar lavage fluid sample
256366000   Leukocyte buffy coat
258587000   Buffy coat
70016006    Complementary DNA
118957004   Normal cell
4421005     Cell structure
65216001    Cerebrospinal fluid

24851008    Deoxyribonucleic acid
39477002    Feces
39477002    Feces
62059006    Gastric contents
386045008   Hair structure
395508003   Hair - material
129332006   Irrigation - action
67889009    Irrigation
52501007    Leukocyte



226789007   Breast Milk
226789007   Human milk
226789007   Mother's milk
314410003   Nail plate structure
72651009    Nail structure

373945007   Pericardial effusion
419185008   Blood plasma
50863008    Plasma

372087000   Primary malignant neoplasm
86049000    Neoplasm, malignant (primary)
88878007    Protein
27888000    Ribonucleic acid
256897009   Saliva
67922002    Serum
258661006   Slide

45710003    Sputum
74616000    Sweat
431898009   Joint fluid
6085005     Synovial fluid
85756007    Body tissue structure
85756007    Body tissue structure
10003008    Non-specific
78014005    Urine
247089004   Fluid vitreous
426101004   Vitreous humor
47538007    Vitreous humor
420135007   Whole blood

413490006   American Indian or Alaska native
414978006   Oriental
15086000    Afican American
14045001    Caucasian
413773004   Caucasian
185984009   White




1086007     Female
248152002   Female
10003008   Non-specific


74964007
NCI Code NCI Preferred Name                                NCI Definition

C12472   Adipose Tissue       A specialized form of connective tissue consisting primarily of
                              adipocytes (fat cells), surrounded by a meshwork of collagen fibers.

C12666   Adrenal Gland        A flattened, roughly triangular body resting upon the upper end of each
                              kidney; it is one of the ductless glands furnishing internal secretions
                              (epinephrine and norepinephrine from the medulla and steroid
                              hormones from the cortex).
C13188   Amniotic Fluid       The fluid within the amniotic cavity which surrounds and protects the
                              developing embryo. It is initially produced by the amnion and then later
                              by the lungs and kidneys. The amount at term normally varies from
                              500 to 2000 ml.
C43362   Anus                 The lower opening of the digestive tract, lying in the cleft between the
                              buttocks, through which fecal matter is extruded.
C12669   Aorta                The major arterial trunk that carries oxygenated blood from the left
                              ventricle into the ascending aorta behind the heart, the aortic arch,
                              through the thorax as the descending aorta and through the abdomen
                              as the abdominal aorta; it bifurcates into the left and right common iliac
                              arteries.
C12380   Appendix             Small tissue projection existing as a cecal diverticulum with a
                              questionable history of vestigial versus specialized organ.
C32141   Arm                  The portion of the upper extremity between the shoulder and the
                              elbow. For clinical purposes this term is also used to refer to the whole
                              superior limb.
C12372   Artery               A blood vessel that carries blood away from the heart.
C12447   Basal Ganglia        Clusters of neurons comprising the globus pallidus, putamen, caudate,
                              nucleus accumbens, substantia nigra and subthalamic nucleus. They
                              are involved with high level aspects of inhibitory motor activity in
                              coordination with the excitation commands issued from the cerebellum.

C12376   Bile Duct            Any of the ducts conveying bile between the liver and the intestine,
                              including hepatic, cystic, and common bile duct.
C12678   Biliary Tract        The duct system that transports bile from its origination by hepatocytes
                              in the liver to the small intestine. It is comprised of the common bile
                              duct that connects the liver and gall bladder to the small intestine and
                              the cystic duct that connects the gall bladder to the common bile duct.

C12414   Bladder              The distensible sac-like organ that functions as a reservoir of urine,
                              collecting from the kidneys and eliminating via the urethra.
C12434   Blood                A liquid tissue; its major function is to transport oxygen throughout the
                              body. It also supplies the tissues with nutrients, removes waste
                              products, and contains various components of the immune system
                              defending the body against infection. Several hormones also travel in
                              the blood.
C12679   Blood Vessel         A tubular structure through which the blood circulates in the body.
                              Blood vessels constitute a network composed of arteries, arterioles,
                              capillaries, venules, and veins.
C12366   Bone                 Connective tissue that forms the skeletal components of the body.

C12431   Bone Marrow          The tissue occupying the spaces of bone. It consists of blood vessel
                              sinuses and a network of hematopoietic cells which give rise to the red
                              cells, white cells, and megakaryocytes.
C12439   Brain                  An organ composed of grey and white matter containing billions of
                                neurons that is the center for intelligence and reasoning. It is protected
                                by the bony cranium.
C12441   Brain Stem             The part of the brain that connects the cerebral hemispheres with the
                                spinal cord. It consists of the mesencephalon, pons, and medulla
                                oblongata.
C12971   Breast                 One of two hemispheric projections of variable size situated in the
                                subcutaneous layer over the pectoralis major muscle on either side of
                                the chest.
C12683   Bronchus               Tubular structure in continuation with the trachea, serving as air
                                passage. It terminates in the lung (terminal bronchiole).
C12685   Capillary              Tiny blood vessels that connect the arterioles with the venules.
C12373   Cartilage              A type of connective tissue composed of chondrocytes and an
                                extracellular matrix, composed of collagen, elastin, and ground
                                substance. There are three types of cartilage; namely elastic, hyaline,
                                and fibrocartilage.
C12445   Cerebellum             The portion of the brain located at the base of the skull that is
                                responsible for balance, equilibrium and movement.
C12692   Cerebrospinal Fluid    The fluid that is contained within the brain ventricles, the subarachnoid
                                space and the central canal of the spinal cord.
C12311   Cervix Uteri           The lower part of the uterus occupying the region between the isthmus
                                of the uterus and the vagina. It is divided into supravaginal and vaginal
                                portions.
C12382   Colon                  The part of the large intestine measured from the cecum to the rectum
                                consisting of ascending, transverse, descending and sigmoid portions.
                                The purpose of the colon is to remove water from digested food prior to
                                excretion.
C12700   Cranial Nerve          Any of the 12 paired nerves that originate in the brain stem.
C12702   Diaphragm              Fibromuscular tissue that separates the thoracic from the abdominal
                                cavity. It increases the volume of the thoracic cavity through
                                contractions, thus facilitating respiration.
C12462   Dorsal Root Ganglion   Ganglion with sensory function within the vertebral column.

C12394   Ear                    A sense organ needed for the detection of sound and for establishing
                                balance. The outer ear consists of the auricle, the ear canal as well as
                                the tympanic membrane. The middle ear is made up of an air-filled
                                cavity behind the tympanic membrane that contains the ossicles
                                (malleus, incus and stapes). The inner ear is made up of the cochlea
                                needed for hearing and the vestibular apparatus required for balance.

C13004   Endocardium            The layer of endothelial cells and connective tissue lining the chambers
                                of the heart.
C12865   Endothelial Cell       The main type of cell forming the lining of blood and lymph vessels and
                                the inner layer of the endocardium.
C12328   Epididymis             A crescent-like structure located in the upper and posterior surfaces of
                                the testis. It consists of the efferent ductules and the duct of the
                                epididymis. It facilitates the maturation of sperm that is produced in the
                                testis.
C12389   Esophagus              The portion of the digestive canal between the pharynx and stomach. It
                                is about 25 cm long and consists of three parts: the cervical part, from
                                the cricoid cartilage to the thoracic inlet; thoracic part, from thoracic
                                inlet to the diaphragm; and abdominal part, below the diaphragm to the
                                cardiac opening of the stomach.
C12401   Eye                    The organ of sight or vision.
C12403   Fallopian Tube    One of a pair of tubes that extend from the uterus to each of the
                           ovaries. Following ovulation the egg travels down the fallopian tube to
                           the uterus where fertilization may or may not occur.
C13108   Fascia            A sheet or band of fibrous connective tissue enveloping, separating, or
                           binding together muscles, organs, and other soft structures of the
                           body.
C54187   Floor of Mouth    The area of the mouth under the ventral surface of the tongue.
C32622   Foot              The structure found below the ankle joint required for locomotion.
C12377   Gallbladder       A pear-shaped organ located under the liver that stores and
                           concentrates bile secreted by the liver. From the gallbladder the bile is
                           delivered through the bile ducts into the intestine thereby aiding the
                           digestion of fat-containing foods.
C12725   Gonad             A reproductive system organ that produces and releases either sperm
                           (testis) or eggs (ovary).
C32705   Hair              The filamentous outgrowth of the epidermis.
C12727   Heart             A hollow organ located slightly to the left of the middle portion of the
                           chest. It is composed of muscle and it is divided by a septum into two
                           sides: the right side which receives de-oxygenated blood from the body
                           and the left side which sends newly oxygenated blood to the body.
                           Each side is composed of two chambers: the atrium (receiving blood)
                           and ventricle (ejecting blood).
C12246   Hypopharynx       The lower part of the pharynx that connects to the esophagus.
C32885   Islet Cell        A pancreatic cell that produces and secretes hormones such as insulin
                           and glucagon.
C13044   Joint             The connection point between two bones or skeletal elements. The
                           joint may be fixed or movable.
C84388   Joint Capsule     Dense fibrous connective tissue sealing the joint. It is attached to the
                           bones and provides stability.
C12415   Kidney            One of the two bean-shaped organs located on each side of the spine
                           in the retroperitoneum. The right kidney is located below the liver and
                           the left kidney below the diaphragm. The kidneys filter and secret the
                           metabolic products and minerals from the blood, thus maintaining the
                           homeostasis. On the superior pole of each kidney there is an adrenal
                           gland. Each kidney and adrenal gland is surrounded by fat.

C32898   Knee Joint        A joint connecting the lower part of the femur with the upper part of the
                           tibia. The lower part of the femur and the upper part of the tibia are
                           attached to each other by ligaments. Other structures of the knee joint
                           include the upper part of the fibula, located below and parallel to the
                           tibia, and the patella which moves as the knee bends.

C12346   Lacrimal Gland    Paired, almond-shaped exocrine glands situated superior and posterior
                           to each orbit of the eye that produce and secrete the watery serous
                           component of tears.
C12379   Large Intestine   A muscular tube that extends from the end of the small intestine to the
                           anus.
C12420   Larynx            The cartilaginous structure of the respiratory tract between the pharynx
                           and the trachea. It contains elastic vocal cords required for sound
                           production.
C32974   Leg               One of the two lower extremities in humans used for locomotion and
                           support.
C12529   Leukocyte         Blood cells that are devoid of hemoglobin, capable of ameboid motion
                           and phagocytosis, and act as the principal components of the immune
                           system.
C13046   Ligament       Band of fibrous tissue connecting bone to bone or cartilage to bone
                        thereby supporting or strengthening a joint.
C12220   Lip            Fleshy fold which surrounds the opening of the mouth.
C12392   Liver          A triangular-shaped organ located under the diaphragm in the right
                        hypochondrium. It is the largest internal organ of the body, weighting
                        up to 2 kg. Metabolism and bile secretion are its main functions. It is
                        composed of cells which have the ability to regenerate.

C12468   Lung           One of a pair of viscera occupying the pulmonary cavities of the thorax,
                        the organs of respiration in which aeration of the blood takes place. As
                        a rule, the right lung is slightly larger than the left and is divided into
                        three lobes (an upper, a middle, and a lower or basal), while the left
                        has two lobes (an upper and a lower or basal). Each lung is irregularly
                        conical in shape, presenting a blunt upper extremity (the apex), a
                        concave base following the curve of the diaphragm, an outer convex
                        surface (costal surface), an inner or mediastinal surface (mediastinal
                        surface), a thin and sharp anterior border, and a thick and rounded
                        posterior border.
C12745   Lymph Node     A bean-shaped organ surrounded by a connective tissue capsule. It is
                        part of the lymphatic system and is found through out the body. It is
                        composed predominantly of lymphocytes and its main function is
                        immune protection.
C12535   Lymphocyte     White blood cells formed in the body's lymphoid tissue. The nucleus is
                        round or ovoid with coarse, irregularly clumped chromatin while the
                        cytoplasm is typically pale blue with azurophilic (if any) granules. Most
                        lymphocytes can be classified as either T or B (with subpopulations of
                        each); those with characteristics of neither major class are called null
                        cells.
C33049   Male Prepuce   A fold of skin covering the tip of the penis.
C12748   Mediastinum    A group of organs surrounded by loose connective tissue, separating
                        the two pleural sacs, between the sternum anteriorly and the vertebral
                        column posteriorly as well as from the thoracic inlet superiorly to the
                        diaphragm inferiorly. The mediastinum contains the heart and
                        pericardium, the bases of the great vessels, the trachea and bronchi,
                        esophagus, thymus, lymph nodes, thoracic duct, phrenic and vagus
                        nerves, and other structures and tissues.

C33096   Meniscus       A crescent-shaped wedge of cartilaginous material that serves as a
                        cushion in the knee, between the tuberosities of the femur and the
                        tibia. There are two locations, the medial meniscus located on the inner
                        aspect of the knee and the lateral which is located on the outer aspect.

C33103   Mesentery      A double layer of peritoneum that attaches to the back wall of the
                        abdominal cavity and supports the small intestines.
C13056   Muscle         One of the contractile organs of the body.
C12371   Myocardium     The striated muscle tissue of the heart enveloped by the epicardium
                        and the endocardium.
C12314   Myometrium     The smooth muscle lining the uterus.
C33156   Nail           The cutaneous plate on the dorsal surface of the distal end of a finger
                        or toe.
C12423   Nasopharynx    The part of the pharynx in the back of the throat, at and above the soft
                        palate. The nasopharynx is continuous with the nasal passages.

C13063   Neck           The region that connects the head to the rest of the body.
C12466   Nerve               Part of the peripheral nervous system composed of bundles of nerve
                             fibers running to various organs and tissues of the body using chemical
                             and electrical signals to transmit sensory and motor information from
                             one body part to another.
C12533   Neutrophil          Granular leukocytes having a nucleus with three to five lobes
                             connected by slender threads of chromatin, and cytoplasm containing
                             fine inconspicuous granules and stainable by neutral dyes.

C12756   Nose                A structure of special sense serving as an organ of the sense of smell
                             and as an entrance to the respiratory tract.
C33209   Omentum             A fold of peritoneum originating at the stomach and supporting the
                             viscera.
C12421   Oral Cavity         The cavity located at the upper end of the alimentary canal, behind the
                             teeth and gums that is bounded on the outside by the lips, above by the
                             hard and soft palates and below by the tongue.
C12762   Oropharynx          The part of the pharynx between the soft palate and the upper portion
                             of the epiglottis.
C12404   Ovary               One of the paired female reproductive glands containing the ova or
                             germ cells; the ovary's stroma is a vascular connective tissue
                             containing numbers of ovarian follicles enclosing the ova.
C12393   Pancreas            An organ behind the lower part of the stomach that is the shape of a
                             fish and about the size of a hand. It is a compound gland composed of
                             both exocrine and endocrine tissues. The endocrine pancreas makes
                             insulin so that the body can use glucose (sugar) for energy. The
                             exocrine pancreas makes enzymes that help the body digest food.
                             Spread all over the pancreas are areas called the Islets of Langerhans.
                             The cells in these areas each have a special purpose. The alpha cells
                             make glucagon, which raises the level of glucose in the blood; the beta
                             cells make insulin; the delta cells make somatostatin. There are also
                             PP cells and D1 cells, about which little is known.

C12763   Paranasal Sinus     An air-filled cavity adjacent to the nasal cavity lined by a mucous
                             membrane and located in the bones of the skull. There are four
                             paranasal sinuses on each side of the face: ethmoid, frontal, maxillary,
                             and sphenoid sinus.
C12765   Parathyroid Gland   One of two small paired endocrine glands, superior and inferior, usually
                             found embedded in the connective tissue capsule on the posterior
                             surface of the thyroid gland; these glands secrete parathyroid hormone
                             that regulates the metabolism of calcium and phosphorus. The
                             parenchyma is composed of chief and oxyphilic cells arranged in
                             anastomosing cords.
C12409   Penis               The male organ of urination and copulation.
C13005   Pericardium         A conical membranous sac filled with serous fluid in which the heart as
                             well as the roots of the aorta and other large blood vessels are
                             contained.
C12954   Peripheral Blood    A monocyte found in the general circulation.
         Mononuclear Cell
C12768   Peripheral Nerve    Any nerve outside the brain or spinal cord that connects with peripheral
                             receptors or effectors.
C12770   Peritoneum          The tissue that lines the wall of the abdominal cavity, intestine, and
                             mesentery. It consists of the parietal peritoneum that covers the inside
                             of the abdominal wall and the visceral peritoneum that covers the
                             surface of the intestine and mesentery.
C33318   Pharyngeal Tonsil   A fold of lymphatic tissue covered by ciliated epithelium at the very
                             back of the nose, in the roof of the nasopharynx.
C12425   Pharynx             A hollow tube that starts posterior to the mouth and nasal cavity and
                             ends superior to the trachea and esophagus.
C12398   Pineal Gland        A small endocrine gland in the brain, situated beneath the back part of
                             the corpus callosum, that secretes melatonin.
C12399   Pituitary Gland     Pea-sized endocrine gland located at the base of the brain in the
                             pituitary fossa. It produces and secretes hormones such as oxytocin
                             and vasopressin, to regulate the activities of the hypothalamus.

C13272   Placenta            An organ present in some vertebrates during embryonic gestation that
                             surrounds the fetus and provides it with nutrients and oxygen,
                             facilitates gas and waste exchange between the fetus and mother, and
                             provides parasitic cloaking from the mother's immune system by
                             excretion of neurokinin B.
C13356   Plasma              Plasma is the fluid (noncellular) portion of the circulating blood, as
                             distinguished from the serum that is the fluid portion of the blood
                             obtained by removal of the fibrin clot and blood cells after coagulation.

C12520   Platelet            An irregular, disc-shaped element in the blood that assists in blood
                             clotting. Platelets are not blood cells, they are fragments of large bone
                             marrow cells called megakaryocytes.
C12410   Prostate Gland      The walnut shaped accessory sex gland of the male reproductive
                             system. It is located in the pelvis just below the bladder, surrounding
                             the prostatic part of the urethra. The prostate gland secretes a fluid
                             which is part of the semen.
C12390   Rectum              The terminal portion of the gastrointestinal tract, extending from the
                             rectosigmoid junction to the anal canal.
C12426   Salivary Gland      An exocrine gland that secretes saliva. Salivary glands are mostly
                             located in and around the oral cavity.
C12787   Seminal Vesicle     One of the two paired glands in the male genitourinary system,
                             posterior to the bladder and superior to the prostate gland, that
                             produces fructose-rich seminal fluid which is a component of semen.
                             These glands join the ipsilateral ductus deferens to form the
                             ejaculatory duct.
C12470   Skin                An organ that constitutes the external surface of the body. It consists
                             of the epidermis, dermis, and skin appendages.
C12386   Small Intestine     The section of the intestines between the pylorus and cecum. The
                             small intestine is approximately 20 feet long and consists of the
                             duodenum, the jejunum, and the ileum. Its main function is to absorb
                             nutrients from food as the food is transported to the large intestine.

C12464   Spinal Cord         The elongated, approximately cylindrical part of the central nervous
                             system of vertebrates that lies in the vertebral canal and from which
                             the spinal nerves emerge.
C12432   Spleen              An organ that is part of the hematopoietic and immune systems. It is
                             composed of the white pulp and the red pulp and is surrounded by a
                             capsule. It is located in the left hypochondriac region. Its functions
                             include lymphocyte production, blood cell storage, and blood cell
                             destruction.
C12391   Stomach             An organ located under the diaphragm, between the liver and the
                             spleen as well as between the esophagus and the small intestine. The
                             stomach is the primary organ of food digestion.
C33718   Synovial Fluid      A viscid fluid secreted by the synovial membrane, serving as a
                             lubricant.
C12473   Synovial Membrane   The inner layer of the connective tissue that seals the joint.
C13045   Tendon              A band of fibrous connective tissue that joins bone to muscle.
C12412   Testis                 Either of the paired male reproductive glands that produce the male
                                germ cells and the male hormones.
C12433   Thymus Gland           A bi-lobed organ surrounded by a connective tissue capsule. It is
                                located in the upper anterior portion of the chest, behind the sternum. It
                                is composed predominantly of lymphocytes and fewer epithelial cells.
                                Connective tissue septa separate the lobes into lobules. The lobules
                                contain an outer portion (cortical zone) which is rich in lymphocytes
                                and an inner portion (medullary zone) which is rich in epithelial cells. It
                                is an organ essential for the development of the immune system. Its
                                function is the maturation of the progenitor lymphoid cells to
                                thymocytes and subsequently to mature T-cells. It reaches its greatest
                                weight at puberty and subsequently begins to involute.

C12400   Thyroid Gland          An endocrine gland located at the base of the neck that produces and
                                secretes thyroxine and other hormones. Thyroxine is important for
                                metabolic control.
C12422   Tongue                 The muscular organ located in the floor of the mouth and serving as
                                the principal organ of taste and modification of the voice in speech.

C12802   Tonsil                 The two organs situated in the throat on either side of the narrow
                                passage from the mouth to the pharynx. They are composed of
                                lymphoid tissues.
C12506   Tooth                  The hard bonelike structures in the jaws of vertebrates; primarily used
                                for eating.
C12428   Trachea                The fibrocartilaginous, mucous-lined tube passing from the larynx to
                                the bronchi.
C34320   Umbilical Cord         Extraembryonic structure that connects the fetus to the placenta. It
                                contains two arteries and one vein.
C13300   Umbilical Cord Blood   Blood present in the umbilical vessels at the time of delivery. If
                                cryopreserved at birth, cord blood can serve as a source of autologous
                                lymphocytes for transplantation to a patient later diagnosed and treated
                                for leukemia or lymphoma.
C12416   Ureter                 The thick-walled tube that carries urine from each kidney to the
                                bladder.
C12417   Urethra                The tube carrying urine from the bladder to outside of the body.
C12405   Uterus                 A hollow, thick-walled, muscular organ located within the pelvic cavity
                                of a woman. Within the uterus the fertilized egg implants and the fetus
                                develops during pregnancy.
C12407   Vagina                 The female genital canal, extending from the uterus to the vulva.
C12813   Vas Deferens           Duct carrying spermatozoa.
C12814   Vein                   A blood vessel that carries blood toward the heart.
C12933   Vertebra               Any of the ring-shaped bony structures that constitute the spinal
                                column and surround the spinal cord.
C12998   Vertebral Column       A series of bones, muscles, tendons, and other tissues reaching from
                                the base of the skull to the tailbone. The vertebral column forms the
                                axis of the skeleton and encloses as well as protects the spinal cord
                                and the fluid surrounding the spinal cord.
C12408   Vulva                  The external, visible part of the female genitalia surrounding the
                                urethral and vaginal opening. The vulva includes the clitoris and inner
                                as well as outer labia.
    Row            Tab

2         Anatomic Source


3         Anatomic Source



4         Anatomic Source



5         Anatomic Source

6         Anatomic Source




120       Anatomic Source

7         Anatomic Source


8         Anatomic Source
9         Anatomic Source




10        Anatomic Source

11        Anatomic Source




12        Anatomic Source

13        Anatomic Source




14        Anatomic Source


15        Anatomic Source

16        Anatomic Source
17   Anatomic Source


18   Anatomic Source


19   Anatomic Source


20   Anatomic Source

21   Anatomic Source
22   Anatomic Source



23   Anatomic Source

24   Anatomic Source

25   Anatomic Source


26   Anatomic Source



27   Anatomic Source
28   Anatomic Source


29   Anatomic Source

30   Anatomic Source




31   Anatomic Source

32   Anatomic Source

33   Anatomic Source



34   Anatomic Source




35   Anatomic Source
36   Anatomic Source


37   Anatomic Source


38   Anatomic Source
39   Anatomic Source
40   Anatomic Source



41   Anatomic Source

42   Anatomic Source
43   Anatomic Source




44   Anatomic Source
45   Anatomic Source

46   Anatomic Source

47   Anatomic Source

48   Anatomic Source




49   Anatomic Source




50   Anatomic Source


51   Anatomic Source

52   Anatomic Source


53   Anatomic Source

54   Anatomic Source
55   Anatomic Source

56   Anatomic Source
57   Anatomic Source




58   Anatomic Source




59   Anatomic Source



60   Anatomic Source




61   Anatomic Source
62   Anatomic Source




63   Anatomic Source




64   Anatomic Source

65   Anatomic Source
66   Anatomic Source

67   Anatomic Source
68   Anatomic Source

69   Anatomic Source


70   Anatomic Source
71   Anatomic Source



72   Anatomic Source



73   Anatomic Source

74   Anatomic Source

75   Anatomic Source


76   Anatomic Source

77   Anatomic Source


78   Anatomic Source




79   Anatomic Source



80   Anatomic Source




81   Anatomic Source
82   Anatomic Source


83   Anatomic Source

84   Anatomic Source

85   Anatomic Source



86   Anatomic Source
87    Anatomic Source

88    Anatomic Source

89    Anatomic Source



90    Anatomic Source




91    Anatomic Source



92    Anatomic Source


93    Anatomic Source



94    Anatomic Source

95    Anatomic Source

96    Anatomic Source




97    Anatomic Source

98    Anatomic Source




99    Anatomic Source


100   Anatomic Source




101   Anatomic Source


102   Anatomic Source

103   Anatomic Source
104   Anatomic Source
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106   Anatomic Source




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108   Anatomic Source


109   Anatomic Source


110   Anatomic Source

111   Anatomic Source

112   Anatomic Source

113   Anatomic Source



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118   Anatomic Source
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121   Anatomic Source

122   Anatomic Source



123   Anatomic Source
NCI Code                  NCI Preferred Name

C84524     5' 10' Methylenetetrahydrofolate Reductase
           Deficiency



C27000     Abdominal Aortic Aneurysm




C27593     Abducens Nerve Disorder




C84525     Abetalipoproteinemia



C7419      Acanthoma




C26687     Acanthosis Nigricans




C84526     Acatalasemia




C84527     Achondrogenesis
C34345   Achondroplasia




C84528   Achromatopsia


C3768    Acinar Cell Carcinoma




C3276    Acoustic Schwannoma



C84530   Acquired Hyperostosis Syndrome


C84531   Acrocallosal Syndrome




C34348   Acrocephalosyndactyly

C84532   Acrodermatitis



C84533   Acromegaly




C84534   Actinomycetales Infection




C34350   Actinomycosis
C34578   Acute Disseminated Encephalomyelitis




C84535   Acute Hemorrhagic Leukoencephalitis



C26790   Acute Infective Polyneuritis




C84536   Acute Intermittent Porphyria




C84396   Acute Liver Failure




C3167    Acute Lymphoblastic Leukemia




C3170    Acute Megakaryoblastic Leukemia



C3171    Acute Myeloid Leukemia
C26808   Acute Renal Failure



C3353    Acute Respiratory Distress Syndrome


C84537   Acyl-CoA Dehydrogenase, Long-Chain
         Deficiency


C84538   Acyl-CoA Dehydrogenase, Medium-Chain
         Deficiency



C84539   Acyl-CoA Dehydrogenase, Short-Chain
         Deficiency


C26689   Addison's Disease



C2852    Adenocarcinoma




C2970    Adenoid Cystic Carcinoma




C3339    Adenomatous Polyposis Coli




C84540   Adiposis Dolorosa
C35408   Adrenal Gland Hyperplasia




C2859    Adrenal Gland Neoplasm




C3326    Adrenal Gland Pheochromocytoma




C61252   Adrenoleukodystrophy




C84541   African Trypanosomiasis



C34700   Aganglionic Megacolon




C84542   Agnosia




C4991    AIDS-Related Disorder


C3471    AIDS-Related Lymphoma




C84544   Ainhum



C35139   Alagille Syndrome



C84543   Albinism

C34783   Alcoholic Liver Disease
C84545   Alexander Disease




C84546   Alkaptonuria




C84547   Allergic Bronchopulmonary Aspergillosis

C50575   Alopecia


C34368   Alpha Thalassemia




C84397   Alpha-1 Antitrypsin Deficiency




C84548   Alpha-Mannosidosis



C34842   Alport Syndrome



C84549   Alstrom Syndrome


C3749    Alveolar Rhabdomyosarcoma



C3750    Alveolar Soft Part Sarcoma




C2866    Alzheimer's Disease
C84550   Amaurosis Fugax




C84551   Amebiasis



C4313    Ameloblastoma



C84552   Amniotic Band Syndrome



C84553   Amyloid Neuropathy

C2868    Amyloidosis


C34373   Amyotrophic Lateral Sclerosis


C2877    Anal Neoplasm




C3720    Anaplastic Large Cell Lymphoma




C84559   Andersen Syndrome




C27226   Androgen Insensitivity Syndrome




C2869    Anemia
C84560   Anencephaly




C26693   Aneurysm

C75462   Angelman Syndrome



C3056    Angiofollicular Lymphoid Hyperplasia


C84562   Anhidrotic Ectodermal Dysplasia 1



C84563   Aniridia




C84564   Ankylosing Spondylitis


C34390   Anthracosis

C84565   Anthrax



C84566   Anti-Glomerular Basement Membrane Disease



C61283   Antiphospholipid Syndrome


C34391   Aortic Arch Syndrome


C84567   Aortic Coarctation

C2870    Aplastic Anemia




C9330    Appendix Carcinoma

C3455    Arachnoid Cyst
C37913   Arachnoiditis

C84568   Argininemia


C84569   Argininosuccinic Aciduria


C84570   Arnold-Chiari Malformation

C2881    Arrhythmia

C84571   Arrhythmogenic Right Ventricular Dysplasia


C34398   Arteriosclerosis

C2883    Arthritis


C84572   Arthrogryposis

C84573   Asbestosis

C84472   Asbestos-Related Lung Disorder

C61273   Aspartylglycosaminuria

C28397   Asthma

C60781   Astrocytoma


C2887    Ataxia Telangiectasia Syndrome




C35768   Atherosclerosis

C50466   Atrial Fibrillation




C84473   Atrial Septal Defect


C84574   Atrophic Muscular Disorder
C84575   Auditory Perceptual Disorder

C34378   Autoimmune Hemolytic Anemia

C27029   Autoimmune Hepatitis

C37864   Autoimmune Lymphoproliferative Syndrome


C84576   Autoimmune Polyendocrinopathy Syndrome


C84577   Autosomal Dominant Optic Atrophy

C84578   Autosomal Dominant Polycystic Kidney Disease


C84580   Autosomal Recessive Hypohidrotic Ectodermal
         Dysplasia

C84579   Autosomal Recessive Polycystic Kidney Disease


C84581   Babesiosis

C50780   Bacterial Toxemia

C84583   Balantidiasis


C84584   Balkan Endemic Nephropathy

C84399   Bariatric Surgery


C2891    Barrett Esophagus



C84585   Barth Syndrome


C84586   Bartonella Infection


C34412   Bartter Syndrome


C84587   Becker's Muscular Dystrophy

C34415   Beckwith-Wiedemann Syndrome
C34416   Behcet Syndrome


C3739    Benign Fibrous Histiocytoma


C84588   Benign Migratory Glossitis


C34907   Benign Mucous Membrane Pemphigoid

C84593   Benign Neonatal Epilepsy

C3677    Benign Neoplasm



C2897    Benign Prostatic Hyperplasia



C84402   Benign Recurrent Intrahepatic Cholestasis

C84594   Berardinelli-Seip Congenital Lipodystrophy



C84595   Bernard-Soulier Syndrome


C84596   Beta-Mannosidosis



C84597   Beta-Methylcrotonylglycinuria

C84403   Bile Acid Synthesis Defect

C34421   Biliary Atresia

C51225   Biliary Cirrhosis

C2899    Biliary Tract Disorder


C84598   Biotinidase Deficiency




C4912    Bladder Carcinoma
C2900    Bladder Disorder


C2901    Bladder Neoplasm

C34428   Blastomycosis



C2903    Bloom Syndrome



C34880   Bone Necrosis

C3292    Bone Paget Disease

C84599   Botulism


C27194   Brachial Plexopathy

C84600   Brachial Plexus Neuritis

C8967    Brain Iron Accumulation Type I Syndrome

C4872    Breast Carcinoma




C7436    Bronchial Intraepithelial Neoplasia

C84475   Bronchiectasis

C2911    Bronchitis

C35875   Bronchogenic Carcinoma
C84601   Brown-Sequard Syndrome


C84602   Brucellosis



C71059   Brugada Syndrome



C84389   Bullous Pemphigoid
C84603   Bundle Branch Block


C2912    Burkitt Lymphoma




C62545   Burning Mouth Syndrome

C84604   Buruli Ulcer

C84605   Byssinosis



C84606   CADASIL Syndrome


C84607   Calciphylaxis

C84609   Campomelic Dysplasia

C84610   Camurati-Engelmann Syndrome


C84611   Canavan Disease




C3801    Capillary Hemangioblastoma




C62578   Capillary Leak Syndrome




C84612   Carbamoyl-Phosphate Synthetase I Deficiency


C84615   Carbohydrate-Deficient Glycoprotein Syndrome
C2916    Carcinoma




C2917    Carcinoma In Situ

C50479   Cardiac Arrest

C84617   Cardiofaciocutaneous Syndrome



C50482   Cardiogenic Shock

C34830   Cardiomyopathy


C2931    Cardiovascular Disorder



C4705    Carney Syndrome


C84619   Caroli Disease

C84476   Carotid Artery Disorder

C84618   Cataplexy

C26713   Cataract



C84620   Cat-Scratch Disease




C3086    Cavernous Hemangioma

C83010   Central Core Disease




C84621   Central Nervous System Cavernous
         Hemangioma
C84622   Central Nervous System Vasculitis
C84623   Central Pontine Myelinolysis



C84624   Cerebellar Degeneration

C84625   Cerebral Amyloid Angiopathy

C84626   Cerebral Cavernous Malformation




C34460   Cerebral Palsy


C34461   Cerebrospinal Fluid Otorrhea

C84627   Cerebrospinal Fluid Rhinorrhea




C84628   Cerebrotendinous Xanthomatosis


C3390    Cerebrovascular Accident

C9039    Cervical Carcinoma



C4392    Cervical Symmetrical Lipomatosis


C34411   Cervicocranial Syndrome


C84629   Chagas Disease



C75467   Charcot-Marie-Tooth Disease
C2941    Chediak-Higashi Syndrome




C84630   Cherubism

C84631   Chilblains

C3168    Childhood Acute Lymphoblastic Leukemia


C6207    Childhood Brain Germinoma
C7703    Childhood Brain Neoplasm


C84433   Childhood Diabetes Mellitus

C84448   Childhood Renal Disorder

C7705    Childhood Rhabdomyosarcoma


C35004   Childhood Schizophrenia

C44959   Chlamydia Psittaci Infection


C4436    Cholangiocarcinoma




C34465   Cholecystitis

C2943    Choledochal Cyst

C84632   Chondrodysplasia Punctata

C2946    Chondrosarcoma



C84633   Chorea
C3698    Choroid Plexus Papilloma



C34469   Choroideremia

C34470   Chromosome Disorder

C13375   Chromosome Fragile Site




C84636   Chronic Inflammatory Demyelinating
         Polyneuropathy

C80078   Chronic Kidney Disease

C3163    Chronic Lymphocytic Leukemia



C3174    Chronic Myelogenous Leukemia, BCR-ABL1
         Positive




C3199    Chronic Obstructive Pulmonary Disease


C84637   Chronic Pancreatitis


C9438    Chronic Renal Failure

C34481   Churg-Strauss Syndrome

C34482   Chylous Ascites

C84638   Ciliary Motility Defect

C2951    Cirrhosis



C84639   Citrullinemia


C84640   Classical Lissencephaly
C4264    Clear Cell Sarcoma of the Kidney


C75020   Cleidocranial Dysplasia



C84641   Clubfoot

C84642   Coccidioidomycosis


C34493   Coccidiosis


C9460    Cockayne Syndrome


C84643   Coffin-Lowry Syndrome

C84644   Cogan-Reese Syndrome


C2955    Colorectal Carcinoma




C34497   Coma


C26725   Common Variable Immunodeficiency



C2960    Condyloma Acuminatum

C34360   Congenital Adrenal Gland Hyperplasia

C84477   Congenital Coronary Artery Abnormality

C84645   Congenital Cortical Hyperostosis

C84646   Congenital Dyserythropoietic Anemia
C84647   Congenital Myasthenic Syndrome



C61236   Congenital Pure Red Cell Aplasia

C84482   Congenital Septal Defect

C84648   Congenital Structural Myopathy

C84649   Congenital Syphilis



C3080    Congestive Heart Failure


C84650   Connexin 26 Gene Anomaly

C84651   Cor Triatriatum


C75016   Cornelia De Lange Syndrome




C26732   Coronary Artery Disease

C84478   Coronary Microvascular Disease

C84652   Costello Syndrome



C37935   Cough

C3076    Cowden Syndrome



C84653   Craniofacial Dysostosis



C84654   Craniomandibular Disorder

C84655   Craniosynostosis

C70646   CREST Syndrome
C26802   Creutzfeldt-Jacob Disease




C34518   Cri du Chat Syndrome


C84656   Crigler-Najjar Syndrome


C2965    Crohn Disease



C84657   Cryopyrin-Associated Periodic Syndrome


C84411   Cryptogenic Cirrhosis

C2969    Cushing Syndrome




C34768   Cutaneous Leishmaniasis


C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma

C84663   Cutis Laxa

C2975    Cystic Fibrosis




C34520   Cysticercosis



C2976    Cystinosis




C84664   Cystinuria
C2950    Cytogenetic Abnormality


C53649   Cytomegaloviral Infection



C75012   Dandy-Walker Malformation


C84665   Darier Disease



C84666   De Sanctis-Cacchione Syndrome

C27644   Deafness

C49343   Deep Vein Thrombosis

C84521   Deletion 18p Syndrome

C84522   Deletion 18q Syndrome


C4786    Dementia

C34528   Dengue Fever

C34683   Dengue Hemorrhagic Fever


C84667   Dentinogenesis Imperfecta

C84668   Denys-Drash Syndrome


C2982    Depression

C2983    Dermatitis


C26742   Dermatitis Herpetiformis


C84669   Dextrocardia

C84415   Diabetes Complication

C43263   Diabetes Insipidus


C2985    Diabetes Mellitus
C84420   Diabetic Eye Disease

C84417   Diabetic Nephropathy


C84670   Diffuse Cerebral Sclerosis of Schilder



C84671   Diffuse Idiopathic Skeletal Hyperostosis

C3147    Diffuse Palmoplantar Keratoderma


C2989    DiGeorge Syndrome




C84672   Dihydropyrimidine Dehydrogenase Deficiency



C84673   Dilated Cardiomyopathy


C34540   Dipetalonemiasis

C84675   Distal Muscular Dystrophy

C26752   Diverticulitis

C84676   Donohue Syndrome



C2993    Down Syndrome




C84677   Dracunculiasis


C84427   Drug Induced Liver Injury

C34553   Dry Eye Syndrome
C84678   Duane Syndrome


C34741   Dubin-Johnson Syndrome


C75482   Duchenne Muscular Dystrophy




C84679   Dystrophia Myotonica 1


C84680   Dystrophia Myotonica 2


C84681   Ebstein Anomaly

C5560    Eccrine Porocarcinoma




C84682   Echinococcosis


C84683   Ectodermal Dysplasia

C34567   Ectromelia

C34568   Ehlers-Danlos Syndrome

C84390   Eisenmenger Syndrome




C84684   Ellis-Van Creveld Syndrome


C84685   Emery-Dreifuss Muscular Dystrophy


C84686   Empty Sella Syndrome


C26760   Encephalitis


C84687   Encephalocele
C3008    Enchondromatosis



C84428   End Stage Liver Disease


C84688   Endemic Typhus Fever


C34582   Endocarditis

C8973    Endometrial Stromal Sarcoma




C3014    Endometriosis

C26765   Enteritis

C3016    Eosinophilic Granuloma




C3017    Ependymoma



C84689   Epidemic Louse-Borne Typhus



C67383   Epidermolysis Bullosa



C84690   Epidermolysis Bullosa Acquisita

C84691   Epidermolysis Bullosa Dystrophica

C84692   Epidermolysis Bullosa Simplex

C62569   Epidermolytic Hyperkeratosis


C84693   Epidermolytic Palmoplantar Keratoderma
C3020    Epilepsy



C4298    Epithelioid Hemangioma

C84695   Erythema Infectiosum



C84696   Erythrokeratodermia Variabilis

C34593   Erythromelalgia



C84697   Erythropoietic Porphyria



C84698   Erythropoietic Protoporphyria




C84699   Esophageal Achalasia

C3513    Esophageal Carcinoma



C4817    Ewing Sarcoma




C84479   Excessive Blood Clotting


C3302    Extramammary Paget Disease


C26767   Eye Disorder

C84701   Fabry Disease



C84702   Facial Asymmetry

C84703   Facial Hemiatrophy

C26769   Facial Nerve Paralysis
C84704   Facioscapulohumeral Muscular Dystrophy


C26692   Factor I Deficiency

C84705   Factor XI Deficiency

C26770   Factor XII Deficiency

C3867    Fallopian Tube Carcinoma



C3032    Fallopian Tube Neoplasm



C84554   Familial Amyloid Neuropathy

C84555   Familial Amyloidosis


C82865   Familial Benign Pemphigus

C84706   Familial Dysautonomia

C84773   Familial Hypertrophic Cardiomyopathy

C84707   Familial Mediterranean Fever


C84708   Familial Partial Lipodystrophy


C84709   Familial Periodic Paralysis



C62505   Fanconi Anemia

C3034    Fanconi Syndrome


C84710   Farber Lipogranulomatosis



C84711   Fatal Familial Insomnia




C84712   Felty Syndrome
C84713   Fetal Alcohol Syndrome



C84714   Fibromuscular Dysplasia


C84715   Focal Dermal Hypoplasia


C37308   Focal Segmental Glomerulosclerosis


C84716   Fox-Fordyce Disease


C84717   Fragile X Syndrome



C84718   Friedreich Ataxia



C84719   Frontotemporal Dementia

C84721   Fuchs Endothelial Dystrophy


C61274   Fucosidosis


C84722   Fusobacterium Infection

C84723   Galactosemia



C3844    Gallbladder Carcinoma




C3048    Gallbladder Neoplasm


C3788    Ganglioglioma




C6728    Gardner Syndrome
C84724   Gastric Antral Vascular Ectasia

C4911    Gastric Carcinoma

C3868    Gastrointestinal Stromal Tumor




C80512   Gastroparesis

C84725   Gastroschisis

C61268   Gaucher Disease




C84726   Genu Varum

C84727   Gerstmann-Straussler-Scheinker Disease



C84728   Giant Axonal Neuropathy



C67277   Giant Hypertrophic Gastritis


C84729   Gilbert Syndrome

C84730   Gitelman Syndrome



C61249   Glanzmann Thrombasthenia


C26782   Glaucoma

C3058    Glioblastoma
C26784   Glomerulonephritis


C3060    Glomus Tumor


C84937   Glycine Encephalopathy



C61272   Glycogen Storage Disease


C84733   Glycogen Storage Disease Type I



C84734   Glycogen Storage Disease Type II


C84735   Glycogen Storage Disease Type IIb

C84736   Glycogen Storage Disease Type III


C84737   Glycogen Storage Disease Type IV

C84738   Glycogen Storage Disease Type V


C84739   GM1 Gangliosidosis



C26785   Goiter


C84740   Goldenhar Syndrome


C34649   Goodpasture Syndrome


C3470    Granuloma Annulare



C3070    Granulosa Cell Tumor
C3071    Graves' Disease



C84741   Gray Platelet Syndrome

C84742   Great Vessels Transposition


C84743   Gynatresia

C84744   Gyrate Atrophy


C7402    Hairy Cell Leukemia


C35075   Hairy Tongue


C84745   Hajdu-Cheney Syndrome

C84746   Hallermann Syndrome


C7602    Halo Nevus

C84747   Hantavirus Pulmonary Syndrome

C84748   Hartnup Disease



C27191   Hashimoto Thyroiditis

C35850   Head and Neck Carcinoma
C34665   Heart Block

C3079    Heart Disorder

C50577   Heart Failure

C84480   Heart Murmur

C84750   HELLP Syndrome




C84751   Helminthiasis
C3087    Hemangiopericytoma




C84481   Hemochromatosis

C34675   Hemoglobin C Disease


C3092    Hemoglobinopathy

C34376   Hemolytic Anemia

C75545   Hemolytic Uremic Syndrome

C34792   Hemophagocytic Lymphohistiocytosis




C3093    Hemophilia




C27146   Hemophilia A



C26721   Hemophilia B

C84753   Hemorrhagic Fever with Renal Syndrome


C34963   Henoch-Schonlein Purpura


C3196    Hepatic Disorder

C3095    Hepatitis

C3096    Hepatitis A Infection


C3097    Hepatitis B Infection

C3098    Hepatitis C Infection
C3728    Hepatoblastoma




C3099    Hepatocellular Carcinoma




C84754   Hepatoerythropoietic Porphyria


C84756   Hepatolenticular Degeneration


C84758   Hereditary Angioedema

C84757   Hereditary Angioedema Types I and II




C84759   Hereditary Coproporphyria


C84720   Hereditary Fructose Intolerance



C34379   Hereditary Hemolytic Anemia

C35064   Hereditary Hemorrhagic Telangiectasia



C84761   Hereditary Hyperbilirubinemia


C8498    Hereditary Melanoma



C84760   Hereditary Mucosal Leukokeratosis
C8494    Hereditary Non-Polyposis Colon Cancer




C37261   Hermansky-Pudlak Syndrome

C45909   Hermaphrodite

C84762   Herpes Simplex Encephalitis



C84763   Herpes Zoster Oticus

C84764   HFE-Associated Hereditary Hemochromatosis



C7563    Hidradenoma

C40197   High Grade Cervical Squamous Intraepithelial
         Neoplasia
C36077   Hilar Cholangiocarcinoma

C71719   Histiocytic Necrotizing Lymphadenitis


C84523   HMG-CoA Lyase Deficiency


C9357    Hodgkin Lymphoma




C34357   Holmes-Adie Syndrome


C74988   Holoprosencephaly


C84765   Homocystinuria




C61260   Hunter Syndrome
C82342   Huntington's Disease




C61261   Hurler Syndrome



C27562   Hyaline Membrane Syndrome




C3110    Hydatidiform Mole




C84766   Hydroa Vacciniforme

C3111    Hydrocephalus

C84767   Hydrops Fetalis


C84768   Hymenolepiasis


C84769   Hyperargininemia


C37967   Hypercholesterolemia

C84770   Hyperhomocysteinemia



C84771   Hyperlipoproteinemia Type I


C34708   Hyperlipoproteinemia Type II


C84772   Hyperostosis Frontalis Interna

C3113    Hyperplasia
C3117    Hypertension

C34449   Hypertrophic Cardiomyopathy


C84774   Hypoalphalipoproteinemia

C34380   Hypochromic Anemia


C84775   Hypokalemic Periodic Paralysis


C78350   Hypoparathyroidism



C26798   Hypophosphatasia




C62591   Hypopituitarism



C3128    Hypotension

C84776   Ichthyosis

C84777   Ichthyosis Bullosa of Siemens


C84778   Ichthyosis Vulgaris

C84780   Idiopathic CD4-Positive T-Lymphocytopenia



C84781   Idiopathic Hypersomnolence

C35716   Idiopathic Pulmonary Fibrosis

C3446    Idiopathic Thrombocytopenic Purpura


C34643   IgA Nephropathy


C84782   Ileitis

C84783   Immunodeficiency With Hyper-IgM
C84784   Imperforate Anus

C84785   Inborn Urea Cycle Disorder

C84786   Inclusion Body Myositis

C84787   Incontinentia Pigmenti



C84927   Infantile Neuroaxonal Dystrophy



C84789   Infantile Refsum Disease




C3137    Inflammation




C4001    Inflammatory Breast Carcinoma




C28286   Insomnia

C27189   Interstitial Cystitis


C84790   Intestinal Atresia

C84791   Intracranial Hypertension

C84792   Iridocorneal Endothelial Syndrome


C84484   Iron-Deficiency Anemia

C82343   Irritable Bowel Syndrome



C65184   Islet Cell Adenoma
C75457   Jacobsen Syndrome


C34577   Japanese B Encephalitis


C84793   Jervell and Lange Nielsen Syndrome


C84794   Jeune Syndrome


C74996   Joubert Syndrome


C9233    Juvenile Myelomonocytic Leukemia




C84796   Juvenile Myoclonic Epilepsy

C34999   Juvenile Osteochondrosis of Spine

C34771   Kala-Azar


C75479   Kallmann Syndrome

C9087    Kaposi Sarcoma




C84797   Kartagener Syndrome


C34825   Kawasaki Disease




C84798   Kearns-Sayre Syndrome


C3146    Keratoacanthoma




C26806   Keratoconus

C84799   Kernicterus
C84800   Kleine-Levin Syndrome


C34752   Klinefelter Syndrome



C84801   Klippel-Trenaunay-Weber Syndrome


C84802   Kluver-Bucy Syndrome


C84803   Korsakoff Syndrome


C61254   Krabbe Disease



C3153    Krukenberg Tumor

C84804   Lafora Disease




C3155    Lambert Eaton Myasthenic Syndrome



C84805   Lamellar Ichthyosis


C84806   Landau-Kleffner Syndrome


C3107    Langerhans Cell Histiocytosis




C35056   Latent Syphilis

C84807   Lateral Medullary Syndrome



C84808   Leber Hereditary Optic Atrophy



C84813   Lecithin Acyltransferase Deficiency
C84814   Leigh Disease



C3157    Leiomyoma

C3158    Leiomyosarcoma



C34767   Leishmaniasis




C84816   Lennox-Gastaut Syndrome


C84820   LEOPARD Syndrome



C84824   Leprosy


C84825   Leptospirosis



C61255   Lesch-Nyhan Syndrome




C3161    Leukemia




C84826   Lewy Body Dementia


C26817   Lichen Sclerosus et Atrophicus


C84827   Liddle Syndrome
C3476    Li-Fraumeni Syndrome




C84828   Limb-Girdle Muscular Dystrophy

C4350    Limbic Encephalitis



C84829   Lipoid Proteinosis of Urbach and Wiethe

C3192    Lipoma

C3194    Liposarcoma




C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C84412   Liver Disease Associated with Cystic Fibrosis


C4018    Lobular Breast Carcinoma In Situ



C72069   Localized Scleroderma




C34786   Long QT Syndrome




C36535   Loss of Chromosome 8

C4878    Lung Carcinoma




C27153   Lupus Erythematosus
C3725    Lymphangioleiomyomatosis




C8965    Lymphangioma

C3207    Lymphedema

C9360    Lymphoblastic Lymphoma

C3208    Lymphoma


C26823   Lymphopenia

C84830   Machado-Joseph Disease

C84832   Macroglossia

C84391   Macular Degeneration

C84833   Malakoplakia



C34797   Malaria



C84834   Malformations of Cortical Development

C84835   Malignant Atrophic Papulosis




C4016    Malignant Bone Neoplasm




C3568    Malignant Brain Neoplasm
C4767    Malignant Eye Neoplasm


C4247    Malignant Fibrous Histiocytoma

C84869   Malignant Hyperthermia Syndrome
C7431    Malignant Ovarian Neoplasm



C3798    Malignant Peripheral Nerve Sheath Tumor



C3573    Malignant Pineal Region Neoplasm
C2920    Malignant Skin Neoplasm



C3539    Malignant Splenic Neoplasm

C3552    Malignant Uterine Neoplasm
C84881   Mallory-Weiss Syndrome


C84882   Mansonelliasis

C34806   Maple Syrup Urine Disease




C84883   Marburg Virus Disease


C34807   Marfan Syndrome


C61264   Maroteaux-Lamy Syndrome


C3169    Mast Cell Leukemia


C84269   Mastocytosis



C34751   Medullary Sponge Kidney


C3222    Medulloblastoma
C84795   Meesmann Corneal Dystrophy



C34382   Megaloblastic Anemia


C3224    Melanoma




C84885   MELAS Syndrome

C84886   Melkersson-Rosenthal Syndrome

C84887   Melorheostosis


C84888   Meningeal Tuberculosis

C75486   Menkes Disease


C84392   Mental Retardation

C9231    Merkel Cell Carcinoma




C84889   MERRF Syndrome

C3234    Mesothelioma

C84442   Metabolic Syndrome



C61251   Metachromatic Leukodystrophy




C84890   Mevalonate Kinase Deficiency
C70549   Microscopic Polyarteritis




C84891   Microsporidiosis

C34844   Minimal Change Glomerulonephritis


C84443   Mitochondrial Hepatopathy

C50655   Mitral Valve Prolapse




C84892   Mixed Connective Tissue Disease

C84893   Mobius Syndrome


C84894   Monilethrix

C35548   Monoclonal Gammopathy

C3996    Monoclonal Gammopathy of Undetermined
         Significance



C70938   Mononeuritis Multiplex




C61263   Morquio Syndrome

C84895   Moyamoya Disease



C61267   Mucolipidosis


C84896   Mucolipidosis Type IV


C85053   Mucopolysaccharidosis Type I
C84897   Mucopolysaccharidosis Type IIIA


C84898   Mucopolysaccharidosis Type IIIB


C84899   Mucopolysaccharidosis Type IIIC


C84900   Mucopolysaccharidosis Type IIID


C84901   Mucopolysaccharidosis Type IVA


C84902   Mucopolysaccharidosis Type IVB

C84904   Muenke Syndrome


C84905   Muir-Torre Syndrome



C84906   Mulibrey Nanism


C34522   Multi-Infarct Dementia

C84907   Multiple Acyl-CoA Dehydrogenase Deficiency



C6432    Multiple Endocrine Neoplasia




C3225    Multiple Endocrine Neoplasia Type 1


C3226    Multiple Endocrine Neoplasia Type 2A


C3227    Multiple Endocrine Neoplasia Type 2B

C53457   Multiple Osteochondromas
C3243    Multiple Sclerosis


C84908   Multiple Sulfatase Deficiency Disease



C84909   Multiple System Atrophy

C84910   Muscular Dystrophy



C3246    Mycosis Fungoides



C3247    Myelodysplastic Syndrome




C3520    Myeloid Sarcoma

C27996   Myocardial Infarction

C84911   Myokymia


C27578   Myositis

C3253    Myositis Ossificans

C84912   Myotonia Congenita


C84913   Myotonic Disorder



C84914   Myotonic Dystrophy

C75120   Nail-Patella Syndrome


C84489   Narcolepsy


C8196    Nasal Cavity and Paranasal Sinus Lethal Midline
         Granuloma
C3257    Nasopharyngeal Neoplasm



C84915   Necrotizing Enterocolitis



C84916   Necrotizing Fasciitis


C34637   Necrotizing Ulcerative Gingivitis


C84917   Nelson Syndrome



C84446   Neonatal Hepatitis

C27560   Neonatal Respiratory Distress Syndrome


C2879    Neoplasm of the Diffuse Neuroendocrine System

C84918   Nephrocalcinosis

C84919   Nephrogenic Diabetes Insipidus

C84920   Nephrogenic Fibrosing Dermopathy

C34843   Nephropathy

C4375    Nesidioblastosis

C84922   Netherton Syndrome

C84923   Neural Tube Defect


C84926   Neuroacanthocytosis


C3270    Neuroblastoma

C84932   Neurocysticercosis

C3773    Neuroendocrine Carcinoma



C3809    Neuroendocrine Neoplasm
C3272    Neurofibroma




C6727    Neurofibromatosis




C3273    Neurofibromatosis Type 1




C3274    Neurofibromatosis Type 2


C84933   Neurogenic Diabetes Insipidus

C3059    Neuroglial Tumor



C84934   Neuromyelitis Optica


C61257   Neuronal Ceroid Lipofuscinosis



C84935   Neurosyphilis


C27961   Neurotoxicity Syndrome



C2892    Nevoid Basal Cell Carcinoma Syndrome




C61269   Niemann-Pick Disease
C85214   Niemann-Pick Disease, Type C



C34850   Night Blindness

C4692    Nijmegen Breakage Syndrome




C40413   No evidence of disease
C84936   Noma


C84444   Nonalcoholic Fatty Liver Disease

C84445   Nonalcoholic Steatohepatitis

C3211    Non-Hodgkin Lymphoma




C2926    Non-Small Cell Lung Carcinoma


C84561   Non-Trisomic Autosomal Aneuploidy

C34854   Noonan Syndrome



C3283    Obesity

C84938   Ochronosis


C84939   Ocular Cicatricial Pemphigoid



C84940   Oculocerebrorenal Syndrome



C84941   Oculocutaneous Albinism



C84942   Oculopharyngeal Muscular Dystrophy
C3288    Oligodendroglioma




C84947   Olivopontocerebellar Atrophy

C4686    Opsoclonus Myoclonus Syndrome


C34863   Optic Atrophy


C84950   Optic Neuritis


C8989    Oral Neoplasm
C4678    Organoid Nevus

C84957   Ornithine Carbamoyltransferase Deficiency
         Disease


C84960   Ornithine Transcarbamylase Deficiency


C75481   Orofaciodigital Syndrome Type 1


C84970   Orthostatic Hypotension

C84973   Orthostatic Intolerance



C84975   Ossification of Posterior Longitudinal Ligament



C3293    Osteoarthritis



C84978   Osteochondrodysplasia

C26837   Osteogenesis Imperfecta


C26838   Osteomalacia



C84985   Osteopoikilosis
C3298    Osteoporosis




C9145    Osteosarcoma




C2880    Ovarian Sertoli-Leydig Cell Tumor


C84986   Pachyonychia Congenita


C7073    Paget Disease



C47857   Paget Disease of the Breast




C35794   Pagetoid Reticulosis



C84987   Pallister-Hall Syndrome


C3469    Palmar Fibromatosis


C34748   Palmoplantar Keratoderma

C37999   Palpitation

C3850    Pancreatic Carcinoma

C3770    Pancreatic Endocrine Carcinoma

C3140    Pancreatic Insulin Producing Tumor


C3306    Pancreatitis

C84988   Pantothenate Kinase-Associated
         Neurodegeneration


C84989   Panuveitis
C3777    Papillary Cystadenocarcinoma


C3307    Papilledema

C84992   Papillon-Lefevre Syndrome


C34891   Paracoccidioidomycosis


C3308    Paraganglioma




C84995   Paragonimiasis


C4685    Paraneoplastic Cerebellar Degeneration



C50687   Paraplegia

C3312    Parapsoriasis

C4906    Parathyroid Gland Carcinoma




C26845   Parkinson's Disease




C61233   Paroxysmal Nocturnal Hemoglobinuria



C34903   Pars Planitis



C84492   Patent Ductus Arteriosus


C84449   Pediatric Obesity
C85002   Pelger-Huet Anomaly


C75487   Pelizaeus-Merzbacher Disease



C85003   Pemphigoid Gestationis

C34909   Pemphigus

C3316    Penile Fibromatosis


C34915   Pericarditis

C4797    Perineural Cyst

C84496   Peripheral Arterial Disorder


C3321    Peripheral Nervous System Neoplasm
C3501    Peripheral Sensory Neuropathy

C85004   Peritoneal Panniculitis

C2871    Pernicious Anemia


C85005   Peroxisomal Disorder


C85006   Persistent Fetal Circulation Syndrome


C34766   Perthes Disease

C3023    Petit Mal Epilepsy

C3324    Peutz-Jeghers Syndrome




C81315   Phenylketonuria

C85008   Pick's Disease

C85009   Piebaldism



C85010   Pierre Robin Syndrome
C7368    Pilomatricoma




C3328    Pineal Region Neoplasm




C85011   Pinta




C85012   Piriformis Muscle Syndrome


C3330    Pituitary Gland Neoplasm

C85013   Pityriasis Lichenoides



C85014   Pityriasis Rubra Pilaris


C85015   Plague




C3180    Plasma Cell Leukemia




C3242    Plasma Cell Myeloma



C9349    Plasmacytoma


C85016   Plummer-Vinson Syndrome

C26861   Pneumoconiosis


C80303   POEMS Syndrome
C85017   Poland Syndrome


C75464   Polycystic Kidney Disease




C3336    Polycythemia Vera




C85018   Polymyalgia Rheumatica



C26925   Polymyositis

C34610   Polyostotic Fibrous Dysplasia


C85019   Porokeratosis


C85020   Postural Orthostatic Tachycardia Syndrome



C75463   Prader-Willi Syndrome


C79704   Precocious Puberty

C85021   Preeclampsia


C34940   Pre-Excitation Syndrome

C4371    Pregnancy Associated Hypertension



C85022   Priapism


C27167   Primary Biliary Cirrhosis
C6915    Primary Effusion Lymphoma




C48280   Primary Hyperparathyroidism




C85023   Primary Hypertrophic Osteoarthropathy


C85024   Primary Progressive Aphasia

C85025   Primary Progressive Nonfluent Aphasia

C4828    Primary Sclerosing Cholangitis



C34951   Progeria




C85026   Progressive Bulbar Palsy


C84453   Progressive Familial Intrahepatic Cholestasis

C26815   Progressive Multifocal Leukoencephalopathy

C85027   Progressive Muscular Atrophy


C7636    Progressive Myoclonus Epilepsy

C85028   Progressive Supranuclear Palsy

C85029   Prolidase Deficiency


C84457   Proliferative Diabetic Retinopathy


C85030   Propionic Acidemia



C85031   Prosopagnosia

C26865   Prostate Disorder
C3343    Prostate Neoplasm
C26866   Prostatitis

C85032   Proteus Syndrome


C85033   Prune Belly Syndrome


C85034   Pseudohypoaldosteronism



C3345    Pseudomyxoma Peritonei




C85035   Pseudotumor Cerebri


C85036   Pseudoxanthoma Elasticum



C3346    Psoriasis




C85037   Pulmonary Alveolar Proteinosis



C3732    Pulmonary Blastoma




C50713   Pulmonary Embolism

C3348    Pulmonary Emphysema


C26869   Pulmonary Fibrosis
C3120    Pulmonary Hypertension

C34997   Pulmonary Sarcoidosis


C85039   Pulmonary Veno-Occlusive Disease

C85040   Pyruvate Carboxylase Deficiency



C34970   Q Fever


C28182   Rabies




C34972   Raynaud's Disease


C85041   Reflex Epilepsy

C85042   Reflex Sympathetic Dystrophy Syndrome


C85043   Refsum Disease


C9385    Renal Cell Carcinoma




C3149    Renal Disorder




C4376    Renal Failure



C3150    Renal Neoplasm
C28129   Renal Tubular Acidosis




C85044   Renovascular Hypertension

C27561   Respiratory Distress Syndrome

C84501   Restless Leg Syndrome


C4800    Retinal Neoplasm


C85045   Retinitis Pigmentosa



C7541    Retinoblastoma




C62601   Retinopathy

C85046   Retinoschisis

C34982   Retrolental Fibroplasia


C26876   Retroperitoneal Fibrosis



C75488   Rett Syndrome




C34983   Reye Syndrome



C84504   Rh Incompatibility
C8715    Rhabdoid Tumor of the Kidney


C34984   Rheumatic Fever




C2884    Rheumatoid Arthritis



C85047   Rhizomelic Chondrodysplasia Punctata


C85048   Robinow Syndrome



C85049   Romano-Ward Syndrome

C3335    Rothmund-Thomson Syndrome



C85051   Rubella



C75466   Rubinstein-Taybi Syndrome




C85052   Sandhoff Disease




C34995   Sarcoidosis


C9118    Sarcoma




C61265   Scheie Syndrome



C35000   Schistosomiasis
C3362    Schizophrenia


C85056   Scimitar Syndrome

C85057   Scleredema Adultorum


C26746   Scleroderma



C85061   Scleromyxedema


C85062   Sea-Blue Histiocyte Syndrome


C9006    Seborrheic Keratosis


C85073   Selective Antibody Deficiency with Normal
         Immunoglobulins
C9309    Seminoma




C85063   Septo-Optic Dysplasia

C85064   Severe Acute Respiratory Syndrome


C3472    Severe Combined Immunodeficiency


C3794    Sex Cord-Stromal Tumor




C3366    Sezary Syndrome


C85065   Short Rib-Polydactyly Syndrome


C85066   Shy-Drager Syndrome
C26882   Sialadenitis

C85067   Sialic Acid Storage Disease


C34383   Sickle Cell Disease

C85068   Silver-Russell Syndrome


C84395   Simultanagnosia

C85069   Sinus Histiocytosis

C36075   Sinus Histiocytosis with Massive
         Lymphadenopathy



C26883   Sjogren Syndrome




C85070   Sjogren-Larsson Syndrome


C2921    Skin Basal Cell Carcinoma




C34557   Skin Pigmentation Disorder

C26884   Sleep Apnea


C84903   Sly Syndrome


C7724    Small Intestinal Carcinoma

C85071   Smith-Lemli-Opitz Syndrome




C7149    Smoldering Myeloma
C85072   Spasmodic Torticollis
C5041    Speech Manifestations

C85074   Spherocytosis

C85075   Spinal Muscular Atrophy


C85076   Spinal Muscular Atrophy of Childhood


C82341   Spinocerebellar Ataxia


C2929    Squamous Cell Carcinoma




C85077   Staphylococcal Scalded Skin Syndrome


C85078   Stargardt Disease


C85079   Status Epilepticus

C79484   Stevens-Johnson Syndrome




C85170   Stiff Person Syndrome


C6781    Stromal Neoplasm


C3391    Sturge-Weber Syndrome


C85171   Subacute Sclerosing Panencephalitis
C6918    Subcutaneous Panniculitis-Like T-Cell
         Lymphoma




C3795    Subependymoma




C85172   Subvalvular Aortic Stenosis

C85173   Sudden Infant Death Syndrome

C85174   SUNCT Syndrome


C85175   Superior Mesenteric Artery Syndrome



C3396    Superior Vena Cava Syndrome



C85176   Supravalvular Aortic Stenosis

C85177   Sweet Syndrome



C85178   Swyer James Syndrome

C35055   Syphilis




C85179   Syringomyelia



C9235    Systemic Mastocytosis
C72070   Systemic Scleroderma




C35057   Tabes Dorsalis


C85180   Taeniasis




C35062   Takayasu Arteritis

C85181   Takotsubo Cardiomyopathy

C85182   Tangier Disease



C85183   Tarsal Tunnel Syndrome

C85184   Tay-Sachs Disease




C4664    T-Cell Large Granular Lymphocyte Leukemia


C35065   Temporal Arteritis



C3404    Testicular Neoplasm

C85185   Tetanus


C84505   Tetralogy of Fallot


C85186   Thalamic Disease


C35069   Thalassemia


C34375   Thalassemia Major
C85187   Thanatophoric Dysplasia


C85188   Thoracic Outlet Syndrome



C3408    Thrombocytopenia

C78797   Thrombotic Thrombocytopenic Purpura




C85189   Thyroglossal Duct Cyst

C85190   Thyroid Dysgenesis

C4815    Thyroid Gland Carcinoma


C85191   Thyroid Hormone Resistance Syndrome


C85192   Togaviridae Infection


C85193   Tolosa-Hunt Syndrome


C35078   Tourette Syndrome


C79777   Toxic Epidermal Necrolysis




C85194   Toxocariasis



C85195   Tracheobronchomalacia


C85196   Tracheobronchomegaly

C35080   Tracheoesophageal Fistula

C85198   Transient Global Amnesia
C75018   Treacher Collins Syndrome



C85197   Treponemal Infection

C85199   Trichinosis



C75118   Trichorhinophalangeal Syndrome Type II



C4924    Trichothiodystrophy

C85202   Tricuspid Atresia

C85203   Trigger Finger Disorder

C85204   Triploidy Syndrome

C78651   Trismus

C36420   Trisomy 12

C36626   Trisomy 18

C36396   Trisomy 8

C84282   Trisomy 9

C3422    Trophoblastic Tumor

C85207   True Hermaphroditism

C3423    Tuberculosis




C3424    Tuberous Sclerosis


C85208   Tularemia
C26900   Turner Syndrome


C2986    Type 1 Diabetes Mellitus


C26747   Type 2 Diabetes Mellitus


C2952    Ulcerative Colitis



C85215   Uniparental Disomy



C85216   Urachal Cyst

C3430    Urinary System Disorder

C50791   Urinary Tract Infection


C3433    Urticaria Pigmentosa/Maculopapular Cutaneous
         Mastocytosis




C85217   Usher Syndrome



C61574   Uterine Corpus Cancer

C85218   Uveomeningoencephalitic Syndrome


C3917    Vaginal Carcinoma

C3437    Vaginal Neoplasm



C45525   Valvular Heart Disorder

C66915   Variant Angina

C35114   Varicose Vein

C85219   Variegate Porphyria
C84459   Vascular Access Graft Failure

C34525   Vascular Dementia

C35117   Vascular Disorder


C26912   Vasculitis




C84506   Ventricular Septal Defect



C84467   Vesicoureteral Reflux

C26749   VIP Producing Tumor


C34758   Visceral Larva Migrans



C85220   Vitamin A Deficiency

C85221   Vitamin B6 Deficiency


C3105    Von Hippel-Lindau Syndrome




C68677   von Willebrand Disease



C85213   von Willebrand Disease, Type 3


C4866    Vulvar Carcinoma



C85222   Waardenburg Syndrome


C80307   Waldenstrom Macroglobulinemia
C85223   Wallerian Degeneration



C85224   Wandering Spleen



C85225   Waterhouse-Friderichsen Syndrome



C3444    Wegener Granulomatosis


C85226   Weill-Marchesani Syndrome



C35764   Wernicke-Korsakoff Syndrome

C84788   West Syndrome



C85227   Western Equine Encephalomyelitis


C85228   Whipple Disease


C85231   Whooping Cough


C85232   Williams Syndrome



C3267    Wilms Tumor



C3718    Wilms Tumor-Aniridia-Genitourinary Anomalies-
         Mental Retardation Syndrome




C3448    Wiskott-Aldrich Syndrome


C35132   Wolff-Parkinson-White Syndrome
C35528   Wolf-Hirschhorn Syndrome




C35133   Wolfram Syndrome

C61271   Wolman Disease



C78719   Wound Complication

C3452    Xeroderma Pigmentosum




C34503   Xerophthalmia


C85233   X-Linked Bulbar-Muscular Atrophy


C85234   X-Linked Dominant Hypophosphatemic Rickets


C84779   X-Linked Ichthyosis


C4682    X-Linked Severe Combined Immunodeficiency

C85210   XO Syndrome


C85236   XXXY and XXXXY Syndrome



C85237   XYY Syndrome



C41353   Yaws




C35547   Yellow Fever Virus Infection
C85238   Yellow Nail Syndrome


C3011    Yolk Sac Tumor




C85239   Zellweger Syndrome



C3453    Zollinger Ellison Syndrome



C77212   Zygomycosis
                                           NCI Definition                                               Row

A rare disorder associated with mental retardation, spasticity, and early death.                       968




Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and       438
legs.




A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).            439




An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol      440
and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include
failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.

A benign skin neoplasm composed of epithelial cells.                                                   441




A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic,   442
drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.




A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. 443
It is usually manifested with periodontal infections.




A rare group of disorders characterized by defective development of bones and cartilage.               444
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected          445
individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies
with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow
extension, genu varum, and trident hand. (MeSH)




An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in     446
which the individual can only perceive black, white, or shades or gray, or incomplete, in which the
individual has a residual amount of color vision.
A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns.        447
Representative examples include the acinar cell carcinoma of the pancreas and the acinar
adenocarcinoma of the prostate gland.




A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that            448
protects the acoustic nerve - the nerve of hearing.

A chronic inflammatory disorder characterized by hyperostosis, osteitis, synovitis and palmoplantar 449
pustulosis. The most common site of involvement is the anterior chest wall.
A rare genetic syndrome characterized by agenesis of the corpus callosum, polydactyly, mental and 450
motor retardation.



A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.                451

An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus       452
infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of
cutaneous rashes and patches on the palms and soles. The trunk is not affected.

A syndrome characterized by enlargement of the hands, feet, ears, nose, lips, and tongue, skin          453
thickening and swelling of internal organs. It is caused by overproduction of growth hormone in the
pituitary gland, usually by a pituitary adenoma.


An infectious process caused by actinomycetales which is an order of Actinobacteria.                    454




An infectious process caused by bacteria of the Actinomyces species. It is characterized by the         455
formation of purulent and painful abscesses in the mouth, lungs and gastrointestinal tract.
An inflammatory process affecting the central nervous system. It is characterized by perivascular    456
demyelination. Symptoms usually follow an acute viral infection or immunization and include fever,
confusion, somnolence and involuntary movements. It may lead to coma and death.




A degenerative brain disorder presenting with acute neurological manifestations. It usually          457
associated with an acute infection or vaccination. It is characterized by brain hemorrhage, vascular
necrosis and demyelination. Signs and symptoms include fever, headache, vomiting, convulsions
and loss of consciousness.
An acute, autoimmune inflammatory process affecting the peripheral nervous system and nerve          458
roots. It results in demyelination. It is often caused by an acute viral or bacterial infection.



A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a           459
deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis.
Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary
retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of
sensation, anxiety, depression, and arm, leg and back pain.
Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from       283
damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.




Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow 125
and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic
leukemia.




An acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. The     460
prognosis is usually poor. (WHO, 2001)


A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification 126
of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent
genetic abnormalities 2) AML with multilineage dysplasia 3) Therapy-related AML 4) AML not
otherwise categorized. The required bone marrow or peripheral blood blast percentage for the
diagnosis of AML has been recently reduced from 30% (French-American-British [FAB]
classification) to 20% (WHO classification). (WHO, 2001)
Sudden and sustained deterioration of the kidney function characterized by decreased glomerular         284
filtration rate, increased serum creatinine or oliguria.

Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary    207
condition, usually following major trauma or surgery. Cases of neonatal respiratory distress
syndrome are not included in this definition.
A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A          462
dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or
childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia,
muscle weakness and lethargy.
A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A        463
dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy
or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia
and lethargy.
A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A            464
dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or
childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia,
lethargy, hypotonia and failure to thrive.
A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of         465
glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens
(dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.

A common cancer characterized by the presence of malignant glandular cells. Morphologically,            127
adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or
according to the secreting product (e.g., mucinous, serous). Representative examples of
adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell
carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate
adenocarcinoma.
A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells   467
form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma),
cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant
of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands.
Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid
cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur.
Lymph node metastases are unusual; hematogenous tumor spread is characteristic.

An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon 736
and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene
which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they
have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they
tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during
endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and
numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma.
The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding
and mucousy diarrhea.

A rare genetic disorder characterized by the development of painful lipomas during adulthood,           468
especially in menopausal women. Associated symptoms include fatigue, obesity, confusion and
depression.
A congenital or acquired hyperplasia of the cells of the adrenal cortex or medulla.                      469




A benign or malignant (primary or metastatic) neoplasm affecting the adrenal glands.                     470




A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes            187
catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation
includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.
Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth
patterns including trabecular pattern may also be present.
A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system            471
and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal
insufficiency and death.




A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by        472
flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever,
joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic
infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage.
A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It 473
results in a functional stenosis of the distal colon and a massive distention of the proximal colon.



A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, 474
or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically
in the occipital or parietal lobes.



A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by         382
Autoimmune Deficiency Syndrome.

An aggressive lymphoma that develops in HIV-positive patients. There is a significant increase in 475
the incidence of lymphomas associated with the AIDS epidemic in the last two decades. These
lymphomas are usually extranodal, most often express a B-cell phenotype and morphologically are
classified as Burkitt, diffuse large B-cell, and Hodgkin lymphomas. The prognosis is closely related
to the severity of immunodeficiency.
Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic 476
band which constricts the full radius of the digit and eventually causes the spontaneous
autoamputation.

An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is                 285
characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features
(prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations,
and sometimes mild mental retardation.
A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, 478
hair and skin.
A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present 286
with an acute onset or follow a chronic course, leading to cirrhosis.
A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a 479
slow and progressive clinical course and is characterized by developmental delay, macrocephaly,
seizures, dementia and spasticity.



A rare autosomal recessive disorder characterized by abnormalities in the metabolism of               480
phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is
excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black.
The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart
valves, and may result in the formation of kidney stones.

An immune reaction to aspergillus in patients usually suffering from asthma or cystic fibrosis.          481

Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire 796
epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling,
autoimmune disorders or congenital conditions.
A genetic hematologic disorder characterized by partial or complete absence of the alpha globin           482
chains of the heme molecule.




A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood        208
and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from
defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis,
and liver failure.


An autosomal recessive lysosomal storage disease characterized by deficient activity of the          484
enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including
hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal
abnormalities, leveled nasal bridge and protruding forehead.
A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 485
gene. It affects males more often than females and is characterized by hematuria, progressive
renal insufficiency, hearing loss, and ocular abnormalities.

A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and                     486
symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and
congestive heart failure, hepatic and renal failure.
A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round           487
cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth
pattern. The tumor usually presents in the extremities.
A rare malignant neoplasm characterized by the presence of large epithelioid cells with abundant     488
cytoplasm forming nests and pseudoalveolar structures. The groups of the epithelioid cells are
separated by thin-walled sinusoidal spaces. It occurs most often in adolescents and young adults.
In adults the most common sites of involvement are the extremities, and in infants and children, the
head and neck. It usually presents as a slowly growing mass and it frequently metastasizes to other
anatomic sites. The most common sites of metastasis are the lungs, bone, and brain.

A progressive, neurodegenerative disease characterized by loss of function and death of nerve            489
cells in several areas of the brain leading to loss of cognitive function such as memory and
language.
Transient loss of vision in one eye due to retinal ischemia.                                           490




A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is         491
manifested with bloody diarrheas, abdominal pain, nausea and fever. In rare cases it may spread to
the liver, brain and lungs.
The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth 492
and usually affecting the molar-ramus region of the mandible or maxilla. Although most
ameloblastomas are morphologically and clinically benign, they may cause extensive local
destruction, recur, or metastasize.
A rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous 493
amniotic bands during pregnancy. It may result in the formation of constriction rings around the
digits and upper and lower extremities, swelling of the extremities and congenital amputations.

Neuropathy caused by amyloid deposition in the peripheral nerves.                                      494

A disorder characterized by the localized or diffuse accumulation of amyloid protein in various        495
anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long
standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the
nerves, skin, tongue, joints, heart,form of amyloidosis. and adrenal glands.
An autosomal dominant inherited liver, spleen, kidneys                                                 496


A benign or malignant neoplasm involving the anus.                                                     497




A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells.    498
The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most
frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with
advanced disease. The most important prognostic indicator is ALK positivity, which has been
associated with a favorable prognosis. (WHO, 2001)
A form of long QT syndrome characterized by ventricular arrhythmia, muscle weakness, and               499
developmental abnormalities which include micrognathia, low-set ears and deformities of the
fingers.



A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality 1256
of the genes encoding androgen receptors. It results in a female sex appearance or the
development of both male and female characteristics.

A reduction in the number of red blood cells per cu mm, the amount of hemoglobin in 100 ml of      209
blood, and the volume of packed red blood cells per 100 ml of blood. Clinically, anemia represents
a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an
imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and
A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain      501
and skull in the fetus.




Bulging or ballooning in an area of an artery secondary to arterial wall weakening.                       210

A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, 502
and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A
minority of cases result from mutations in the UBE3A gene.

A disorder characterized by lymphoid hyperplasia in the lymph nodes. There are two histologic         503
variants recognized: the hyaline-vascular type and the plasma cell type. In the hyaline vascular type
there are hyalinized vessels present in the lymphoid follicles. In the plasma cell type there is
pronounced plasma cellcharacterized Clinically, the in the gene encoding ectodysplasin A. with
A rare genetic disorder proliferation. by mutations disease may be localized; manifested It results 504
in abnormalities in the morphogenesis of the structures originating from the ectoderm.


A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of      505
the eye.



An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints         506
of the spine and sacroiliac joints. It predominantly affects young males. Patients present with
stiffness and pain in the spine.
A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to        626
the formation of black nodules and emphysema. It occurs in coal miners.
An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or   507
skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of
breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea.
Patients with skin infection develop blisters and ulcers.
An autoimmune disorder characterized by the production of autoantibodies against type IV collagen         508
of the glomerular basement membrane of the kidney. In the majority of patients the immune
reaction also extends to the alveolar capillary membrane of the lungs. The latter cases are referred
to as Goodpasture Syndrome.
A syndrome associated with a variety of diseases, notably systemic lupus erythematosus and other          211
connective tissue diseases, thrombopenia, and arterial or venous thromboses, marked by the
presence of antibodies directed against phospholipids.
A syndrome resulting from structural defects of the arteries that arise from the aortic arch. Signs       510
and symptoms include weakness, dizziness, arm numbness, blurred vision and transient ischemic
attacks.
Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle           511
weakness, shortness of breath, headaches and leg cramps.
Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production           212
of erythroblasts and red cells is markedly decreased, and it may be associated with decreased
production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic
anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or
immunologic factors.
A malignant epithelial neoplasm arising from the appendix. The vast majority of the cases are             128
adenocarcinomas.
An intracranial or spinal cyst which contains fluid and is composed of arachnoid cells. Intracranial      513
arachnoid cysts may present with headaches, seizures and hydrocephalus. Spinal arachnoid cysts
may present with symptoms of radiculopathy.
Inflammation of the arachnoid membrane and adjacent subarachnoid space.                                   514

An autosomal recessive metabolic disorder characterized by a deficiency of the enzyme arginase            515
resulting in accumulation of arginine and urea in the blood. Signs and symptoms include
developmental delays, spasticity, ataxia, seizures and mental retardation.
A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by                  516
accumulation of ammonia in the blood. It presents with lethargy in the first few days of life,
accompanied by developmental delay and mental retardation.
A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum          517
through the foramen magnum. It may result in hydrocephalus.
Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its      213
subsequent propagation) in the heart.
A rare genetic disorder characterized by cardiomyopathy affecting the right ventricle. The heart          518
tissue is replaced by fibrous and adipose tissues. Patients often have arrhythmias. It is a cause of
sudden death.
A vascular disorder characterized by thickening and hardening of the walls of the arteries.               361

An inflammatory process affecting a joint. Causes include infection, autoimmune processes,                362
degenerative processes, and trauma. Signs and symptoms may include swelling around the
affected joint and pain.
A rare, non-progressive congenital disorder characterized by multiple joint contractures which are        519
present at birth.
A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma.   520
Signs and symptoms include coughing, shortness of breath and chest pain.
A disorder affecting the lungs due to asbestos exposure. Examples include asbestosis and lung             214
carcinoma.
A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-             521
glucosaminidase. It is characterized by developmental delays during childhood.
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial        215
passageways.
A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following         522
clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma,
pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.
Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic        523
drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2%
of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk
for several types of cancer. The normal version of the gene that is defective in AT appears to
activate the p53-dependent response to DNA damage.

Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete   216
occlusion of the arterial lumen.
A supraventricular arrhythmia characterized by uncoordinated atrial myocardium activation due to          217
multiple reentry circuits with consequent deterioration of atrial mechanical function. Instead of
intermittently contracting, the atria quiver continuously in a chaotic pattern, causing a totally
irregular, often tachycardia ventricular rate. On the ECG it is described by the replacement of
consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape, and timing,
associated with an irregular, frequently rapid ventricular response when atrioventricular conduction
is intact.
A congenital disorder characterized by the presence of a defect (opening) in the septum that              218
separates the two atria of the heart. The atrial septal opening that is present in the fetus and
normally closes within weeks or months after birth.
A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal       524
reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle
tissues or diseases of the peripheral nerves.
A disorder characterized by the inability of the brain to properly interpret or process the auditory        525
signals it receives from the anatomic structures of the ear.
An acquired anemia caused by destruction of the red blood cells by autoantibodies. Causes include           526
autoimmune disorders, lymphoproliferative disorders, infections and drugs.
Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the         527
autoantibodies against the liver parenchyma.
An autoimmune hematologic disorder characterized by autoimmune hemolytic anemia,                            528
thrombocytopenia, lymphadenopathy, hepatomegaly and splenomegaly. Patients are at an
increased risk of developing Hodgkin and non-Hodgkin lymphomas.
A rare genetic syndrome characterized by autoantibodies production against more than one                    529
endocrine organ. The range of endocrinopathies includes hypoparathyroidism, adrenal
insufficiency, hypogonadism, type 1 diabetes mellitus and hypothyroidism.
An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual            530
loss.
Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at            531
middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop
brain aneurysms and liver cysts.
A rare autosomal recessive disorder characterized by developmental abnormalities of the skin,               532
sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms
include hypotrichosis and teeth malformations.
Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with                533
progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities
of chromosome 6.
A parasitic infection caused by Babesia. It is transmitted by ticks and infects the red blood cells.        534
Signs and symptoms include fever, fatigue and hemolytic anemia.
The condition resulting from the spread of bacterial products (toxins) by the bloodstream.                  1273

A parasitic protozoal infection caused by Balantidium coli that involves the large intestinal mucosa.       535
Signs and symptoms include nausea, vomiting, diarrhea, abdominal pain, fever, headache and
weight loss.
A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube        536
river in the Balkans. It leads to end-stage renal disease.
Surgery performed in morbidly obese patients to help promote weight loss. The procedure aims at             288
the reduction of the stomach size and it is usually achieved either with the implantation of a medical
device or the removal of part of the stomach.
Esophageal segment lined with columnar metaplastic epithelium which is flat or villiform. Barrett           289
epithelium is characterized by two different types of cells: goblet cells and columnar cells. The
symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most
esophageal adenocarcinomas. (WHO, 2000)
A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include                       537
cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency
and 3-methylglutaconic aciduria.
A gram-negative bacterial infection caused by Bartonella bacilliformis. It is transmitted by ticks, flies   538
and mosquitoes. Signs and symptoms include fever, headache, muscle pain, enlargement of the
lymph nodes and anemia.
A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism,            539
hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not
associated with hypertension.
An X-linked inherited disorder characterized by slowly progressing weakness in the muscles of the           541
legs and pelvis.
A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth             542
weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this
syndrome have an increased risk of developing embryonal tumors (gonadoblastoma,
hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas.
A rare chronic inflammatory disorder of unknown etiology. It is characterized by the development of       543
ulcers in the mouth and genital region and uveitis. Other signs and symptoms include arthritis, deep
vein thrombosis and superficial thrombophlebitis.
A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is            544
characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and
stromal hemorrhage.
A benign condition characterized by the development of irregular patches in the surface of the            545
tongue resulting in a map-like appearance. The patches migrate from day to day and usually
resolve without treatment.
A chronic autoimmune disorder characterized by the development of blisters and ulcers in mucous           546
membranes. It affects most often the gums, eyelids and genital mucosa sites.
An inherited or sporadic disorder characterized by epileptic seizures in the first four to six weeks of   547
life. The seizures tend to subside after the fifteenth week of life.
A neoplasm which is characterized by the absence of morphologic features associated with                  365
malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms
remain confined to the original site of growth and only rarely metastasize to other anatomic sites.

A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of 290
epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is
the most common urologic disorder in men, causing blockage of urine flow.

Reappearance of cholestasis caused by obstruction within the liver by non-cancerous conditions.           291

A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by         548
lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy,
cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes
mellitus.
A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V 549
complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the
presence of giant platelets.
An autosomal recessive lysosomal storage disease characterized by a deficient activity of the        550
enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of
this disorder are mental retardation, developmental delays and recurrent respiratory infections.

A very rare metabolic disorder characterized by an inborn error in the leucine degradation pathway. 551
Patients excrete large amounts of beta-methyl-crotonylglycine in the urine.
A congenital or acquired defect in the bile acid biosynthesis, resulting in progressive liver disease. 292

A congenital disorder characterized by blockage or absence of an extrahepatic bile duct.                  293

Cirrhosis of the liver caused either by destruction of the intrahepatic bile ducts (primary biliary       552
cirrhosis) or blockage of the extrahepatic bile ducts (secondary biliary cirrhosis).
A non-neoplastic or neoplastic disorder affecting the intrahepatic or extrahepatic biliary tract.         294
Examples of non-neoplastic disorders include infection and atresia. Examples of neoplastic
disorders include adenoma and carcinoma.
A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent          553
activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs
and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If
left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.

A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas              130
are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas
and small cell neuroendocrine carcinomas.
A non-neoplastic or neoplastic disorder affecting the urinary bladder. A representative example of       295
non-neoplastic bladder disorder is bacterial bladder infection. A representative example of
neoplastic bladder disorder is bladder carcinoma.
A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003                             554

A fungal infection caused by inhalation of spores of Blastomyces dermatitidis. It presents with flu-   555
like symptoms including fever, chills, cough, pleuritic chest pain and myalgias. It may lead to a
chronic granulomatous pulmonary infection and disseminate to other anatomic sites including skin,
nervous system and bones.
Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene                556
encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to
cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells.
(Oncogene 2001 Dec 13;20(57):8276-80)
Death of bone tissue due to traumatic or nontraumatic causes.                                          557

A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed   558
by the replacement of normal bone marrow with vascular and fibrous tissue.
A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum.      559
Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to
muscle paralysis which may result in respiratory failure.
A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and          560
limited movement in the arm or hand.
An inflammatory process affecting the brachial plexus. It results in severe pain in the upper            561
extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.
A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition,         562
lewy body (LB)-like intraneuronal inclusions and neurofibrillary tangles.
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most      131
common malignant tumor in females. Risk factors include country of birth, family history, menstrual
and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens,
contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are
adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic
route, and by the blood vessel route. The most common site of lymph node involvement is the
axilla.
A term referring to neoplastic changes in the bronchial epithelium manifested as dysplasia.              273

Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions       219
which leads to obstruction. The most common cause is bacterial infection.
An acute or chronic inflammatory process affecting the bronchi.                                          220

A lung carcinoma arising from the bronchial epithelium.                                           132
A disorder caused by a spinal injury leading to an incomplete spinal lesion. Patients develop     563
paralysis, ataxia and loss of sensation. Causes include spinal cord tumors, spinal traumas,
ischemia, and inflammatory processes affecting the spine.
A gram negative bacterial infection caused by bacteria of the genus Brucella. Humans are infected 564
by ingesting unpasteurized milk or meat from infected animals. Signs and symptoms include fevers,
sweating, weakness, headache, muscle pain, arthritis and anemia.

A condition characterized by a pattern of right bundle branch block (RBBB) and ST-segment              565
elevation within electrocardiogram (ECG) leads V1-V3. This pattern emerges as a result of a defect
in ion channel genes, resulting in abnormal electrophysiological activity in the right ventricle and a
propensity to malignant tachyarrhythmias.
An autoimmune chronic skin disorder characterized by the presence of large blisters. It usually        366
affects elderly people and tends to subside spontaneously.
An electrocardiographic finding defined by prolongation of the QRS complex. It is caused by              566
damage of one of the bundle branches, resulting in the delay or obstruction of the conduction of
electrical impulses.
A highly aggressive lymphoma composed of monomorphic medium-sized B-cells with basophilic                567
cytoplasm and numerous mitotic figures. It is often associated with the presence of Epstein-Barr
virus (EBV) and is commonly seen in AIDS patients. Three morphologic variants are recognized:
classical Burkitt lymphoma, Burkitt lymphoma with plasmacytoid differentiation, and atypical
Burkitt/Burkitt-like lymphoma. All cases express the MYC translocation [t(8;14)]. (WHO, 2001)

A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.       568

A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular        569
swelling of the skin, leading to the formation of necrotizing ulcers.
An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in      570
workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing.
The symptoms tend to get worse at the beginning of the week and subside by the end of the week.

A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized       571
by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic
attacks. It may lead to cognitive problems and dementia.
A rare syndrome characterized by vascular calcification and skin necrosis. It seen in patients with      572
end stage renal disease.
A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be        573
associated with other skeletal and extraskeletal defects.
An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is                     574
characterized by thickening of the bones, particularly the long bones of the extremities. It is
associated with muscle weakness and tiredness.
A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA          575
gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by
spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and
include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a
very large head.
A WHO grade I tumor of uncertain histogenesis which is composed of stromal cells and abundant            807
capillaries. Approximately 25% of hemangioblastomas are associated with Von Hippel-Lindau
disease, a disease inherited through an autosomal dominant trait and characterized by the
development of capillary hemangioblastomas of the central nervous system and retina, clear cell
renal carcinoma, pheochromocytoma, and pancreatic and inner ear tumors. (Adapted from WHO.)

A syndrome characterized by leakage of intravascular fluids into the extravascular space. This      576
syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following
shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or
poisoning. It can lead to generalized edema and multiple organ failure.

A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of 577
ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures,
developmental delay and mental disability.
An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor     578
retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are 133
called adenocarcinomas, those that arise from squamous epithelium are called squamous cell
carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas.
Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and
necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or
poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other
anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate
carcinoma are the most frequently seen carcinomas.

A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further     134
tissue invasion.
Sudden cessation of the pumping function of the heart, with disappearance of arterial blood               221
pressure, connoting either ventricular fibrillation or ventricular standstill.
A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a                579
distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and
brittle hair, skin disorders, heart malformations, mental retardation and developmental delay.

Shock resulting from primary failure of the heart in its pumping function, as in myocardial infarction,   222
severe cardiomyopathy, or mechanical obstruction or compression of the heart.
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either          223
primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic,
dilated, or restrictive.
A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph     296
vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and
hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial
myxoma and angiosarcoma.
An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is                  580
characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased
endocrine activity and schwannomas.
A rare congenital disorder characterized by cystic dilatation of the intrahepatic bile ducts. It is       581
associated with cholangitis and the formation of stones.
A non-neoplastic or neoplastic disorder affecting the carotid artery.                                     224

A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often           582
follows an experience of intense emotions. It is seen in patients with narcolepsy.
Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity      368
and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most
develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)

A bacterial infection caused by Bartonella henselae. It is transmitted to humans from a scratch, bite, 583
or lick from a cat. A blister or a bump appears on the skin following the scratch or bite.
Subsequently, there is lymph node enlargement around the scratch or bite site. The lymph node
enlargement most often occurs under the arm or the neck. Some patients experience fever, fatigue,
headaches or sore throat as well.
A hemangioma characterized by the presence of cavernous vascular spaces.                               584

An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is          585
characterized by disorganized areas, which are called cores, seen usually in the center of the
muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with
skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.

A cavernous hemangioma arising from the central nervous system.                                           586

Vasculitis affecting the blood vessels of the brain and/or spinal cord.                                   587
A central nervous system disorder caused by demyelination within the central basis pontis of the   588
brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is
observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too
rapidly.
Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or    589
secondary to autoimmune disorders.
A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain.     590

A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused 591
by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch,
thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and
hearing disturbances. Cerebral hemorrhage may also occur.

A group of disorders affecting the development of movement and posture, often accompanied by            369
disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal
or infant brain.
Discharge of cerebrospinal fluid through the ear structures.                                            592

Discharge of cerebrospinal fluid through the nose.                                                      593




A rare inherited lipid-storage disorder caused by defects in the CYP27A1 gene. It is characterized      594
by progressive neurologic dysfunction, premature atherosclerosis and development of cataracts.

A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain           370
parenchyma due to a vascular event.
A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular 135
epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma,
adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated
carcinoma.
A neoplastic process characterized by a symmetric poorly circumscribed overgrowth of adipose      595
tissue in the neck. It predominantly affects middle age men of Mediterranean origin.

A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury       596
usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain,
chronic allergies, dizziness, neck pain, ear pain and vertigo.
A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is           597
characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise,
and swelling at the site of the insect bite. In the chronic phase patients develop
hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.
An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the 598
genes that are responsible for the production of proteins necessary for the function and structure of
the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands,
and arms and loss of sensation in the limbs.
A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular            599
protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial
oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia;
neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal
natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly,
lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart,
and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an
accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man.

A rare disorder usually caused by mutations in the SH3BP2 gene. It is characterized by prominence 600
of the lower part of the face due to bilateral replacement of the mandible or maxilla bones by
excessive fibrous tissue.
A rare condition characterized by skin inflammation, blister formation, swelling and ulcerations in 601
the extremities. It occurs in persons exposed to cold temperatures.
An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute       136
lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.

A germinoma arising from the brain during childhood.                                                    137
An abnormal growth of the cells that comprise the tissues of the brain in a person less than twenty     138
one years old. This term does not specify whether the growth is benign or malignant nor does it
specify location.
Diabetes mellitus that develops during childhood.                                                       297

A kidney disorder that appears during childhood.                                                        298

An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in children. Only a           139
small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in
other anatomical sites.
Schizophrenia occurring in childhood.                                                                   602

A bacterial infection caused by Chlamydia psittaci. Humans are infected by handling sick birds. The 603
Chlamydia cause respiratory infection manifested with fever, malaise, cough, dyspnea, sore throat,
photophobia and headaches.
An malignant tumor composed of cells resembling those of bile ducts. Cholangiocarcinoma is a           140
relatively rare tumor in most populations. It can arise from any portion of the intrahepatic bile duct
epithelium or the hepatic ducts. Grossly, the lesions are nodular, grayish-white firm and solid.
Microscopically, the vast majority of cholangiocarcinomas are adenocarcinomas showing tubular
and/or papillary structures. Early detection of cholangiocarcinomas is difficult, and the overall
prognosis after resection is poor (adapted from WHO, 2000).

An acute or chronic inflammation involving the gallbladder wall. It may be associated with the          605
presence of gallstones.
Congenital cystic dilatation of the hepatic duct or bile duct.                                          606

A rare congenital developmental disorder characterized by the presence of stippled foci of             607
calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It           608
affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are
the most common sites of involvement. Most chondrosarcomas arise de novo, but some may
develop in a preexisting benign cartilaginous lesion.
A neurological condition affecting the involuntary movements. It is characterized by brief, non-       609
repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.
A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid                   610
pathways. Surgical resection is usually curative. (Adapted from WHO.)

A rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It       611
leads to progressive loss of vision.
A disorder that results from a chromosomal abnormality.                                                 613

Heritable sensitive regions of chromosomes which show up in vitro as non-staining bands. They are 614
associated with chromosome breakage and other aberrations. No abnormal phenotype has been
definitely identified with autosomal fragile sites, but some rare autosomal recessive disorders may
be due to homozygosity for fragile sites. A fragile site on the X chromosome is associated with
Fragile X Syndrome. Fragile sites are designated by the letters ""fra"" followed by the designation
for the specific chromosome and locus.
An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves.      615
Patients present with progressive weakness and loss of sensory function in the legs and arms.

Gradual and usually permanent loss of kidney function resulting in renal failure. Causes include        299
diabetes, hypertension, and glomerulonephritis.
The most common type of chronic lymphoid leukemia. It comprises 90% of chronic lymphoid                 141
leukemias in the United States. Morphologically, the neoplastic cells are small, round B-
lymphocytes. This type of leukemia is not considered to be curable with available therapy. (WHO,
2001)
A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion            142
gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects
middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night
sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial
indolent chronic phase which is followed by an accelerated phase, a blast phase, or both.
Allogeneic stem cell transplantation and imatinib therapy delay disease progression and prolong
overall survival.
A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic      225
and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.

A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs 617
and symptoms include abdominal pain, malabsorption and diabetes mellitus.

Impairment of the renal function due to chronic kidney damage.                                          300

An autoimmune necrotizing vasculitis with the formation of granulomas. It is a pulmonary and            618
systemic vasculitis associated with eosinophilia.
Accumulation of chyle (milky fluid) in the peritoneal cavity. It results from the disruption of the     619
lymphatic vessels in the abdominal cavity.
Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and           620
paranasal sinuses, the respiratory tract and spermatozoa.
A disorder characterized by replacement of the liver parenchyma with fibrous tissue and                 301
regenerative nodules. It is usually caused by alcoholisms, hepatitis B, and hepatitis C.
Complications include the development of ascites, esophageal varices, bleeding, and hepatic
encephalopathy.
A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13              621
genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and
other toxic substances in the blood.
A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain          622
malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral
cortex. Signs and symptoms include epilepsy and mental retardation.
A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or    143
spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma
frequently metastasizes to the bones.
A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized           623
by developmental abnormalities in the bones and teeth, including the complete or partial absence of
the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and
short stature.
A common birth defect characterized by an inward and downward position of the feet. Afflicted           625
individuals appear as if they walk on the side of their feet.
A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like      627
symptoms. However, pneumonia and systemic involvement with the formation of abscesses may
develop as complications of the disease.
A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the         628
parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea
and vomiting.
An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is                 629
characterized by growth and developmental delay, vision and hearing impairment, and impairment
of the peripheral nervous system function.
An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental            630
retardation, developmental delay, microcephaly, short stature and kyphoscoliosis.
A very rare syndrome characterized by eye abnormalities that lead to vision impairment. These           631
abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris
to the lens and glaucoma.
A carcinoma arising from the colon or rectum. Among both males and females, it is the second            144
most common visceral malignancy in the United States, with an expected 185,000 new cases each
year. It is considered as a disease of Western-world lifestyle. Grossly, most colorectal carcinomas
are either polypoid or of the ulcerative-infiltrating type. Adenocarcinoma is the most common
carcinoma in the colon and rectum. Colorectal adenocarcinoma can be divided in three grades:
Grade I (low grade or well-differentiated), grade II (average grade or moderately differentiated) and
grade III (poorly differentiated). The following histopathologic features have been shown to be
prognostic indicators in multivariate analysis: microacinar versus macroacinar growth pattern,
endocrine cells detected by chromogranin immunohistochemistry, Crohn's-like reaction and tumor
budding. The standard therapy for colorectal carcinoma is surgical resection. The 5-year crude
survival rate after curative resection for colorectal carcinomas ranges between 40% and 60% in
most large series (Sternberg's Diagnostic Surgical Pathology, 3rd ed., 1999).@A cancer arising
from the epithelial cells that line the lumen of the colon.
A state of profound unconsciousness associated with markedly depressed cerebral activity. Causes        632
include central nervous system damage, intoxication, and metabolic abnormalities.

A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin             633
classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections.
Complications include autoimmune phenomena and cancer development.

A sexually transmitted papillary growth caused by the human papilloma virus. It usually arises in the 145
skin and mucous membranes of the perianal region and external genitalia.
A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting 634
in hyperplasia of the adrenal cortical cells.
A congenital condition referring to defects of the course and structure of the coronary arteries.      226

A rare congenital disorder characterized by thickening or expansion of the bones.                       635

A rare congenital anemia caused by mutations in the CDAN1 and SEC23B genes.                             636
A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. 637
The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include
muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis.

An inherited condition characterized by aplasia of the erythroid series only. The white cells and       675
platelets are not affected. Patients develop anemia usually in infancy.
A congenital disorder characterized by the presence of an abnormal communication between the            227
atria or the ventricles of the heart due to defects in the cardiac septum.
A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and               638
delayed development of motor skills.
A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted   639
to the infant from a mother with syphilis through the placenta during pregnancy. Signs and
symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.

Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues,  374
resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting
edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
Congenital deafness caused by mutations in the gene GJB2 (deafness gene).                         640

A rare congenital abnormality of the heart characterized by the presence of three atria. The right or 641
left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated
with other heart congenital abnormalities.
A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral 642
problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and
small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe
forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.

Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.                     228

A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial        229
spasm. Chest pain is a frequently observed symptom.
A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental           643
delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart
defects. Patients are at an increased risk of developing benign or malignant neoplasms.

A sudden, often repetitive, spasmodic contraction of the thoracic cavity, resulting in violent release 230
of air from the lungs, and usually accompanied by a distinctive sound.
An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and                 644
neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas,
hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of
the cerebellum.
A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the      645
bones of the skull and face. Patients have a distinctive facial appearance which includes low-set
ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism.

A term referring to disorders affecting the muscles of the head and neck, particularly the              646
masticatory muscles.
A congenital disorder characterized by earlier than normal closure of some or all sutures of the        647
infant skull.
A variant of systemic sclerosis characterized by calcinosis, Raynaud phenomenon, esophageal             648
motility disorders, sclerodactyly, and telangiectasia.
A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is     649
characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and
symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and
weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the
disease.
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is        650
characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round
face, hypertelorism, and cardiac failure.
A rare autosomal recessive inherited syndrome characterized by abnormalities in the metabolism of 651
bilirubin. It results in the development of jaundice. It may cause brain damage in infancy.

A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal 303
wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and
transmural fibrosis. Crohn's disease most commonly involves the terminal ileum; the colon is the
second most common site of involvement.
A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and                   653
symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms
may exacerbate with exposure to cold weather.
Cirrhosis in which no causative agent can be identified.                                                 304

A syndrome caused by high levels of cortisol in the blood either due to excessive production and    377
secretion of corticosteroids secondary to pituitary or adrenocortical neoplasms, or intake of
glucocorticoid drugs. Signs and symptoms include a round face, upper body obesity, fragile and thin
skin, purple stretch marks in the skin, fatigue, muscle weakness, hypertension, diabetes mellitus,
hypertrichosis and amenorrhea in women, impotence in men, and osteoporosis.

Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with              654
erythematous macules and papules, and nodules which may eventually ulcerate. The lesions
appear in the bite site in the exposed skin areas.
A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis                 655
fungoides and primary cutaneous anaplastic large cell lymphoma.
A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of   656
elasticity resulting in loosening and folding of the skin.
A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The          231
secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which
causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi).
The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and
include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools,
chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the
fingers, and salt depletion in hot weather.

A parasitic infection caused by the larval form of Taenia solium. It is a disseminated infection        658
affecting the central nervous system, subcutaneous tissues, lungs, heart and liver. The most
serious complications result from infection of the brain parenchyma. Patients may develop seizures,
hydrocephalus, encephalopathy and meningoencephalitis.
An autosomal recessive hereditary disorder characterized by defective transportation of cystine         659
across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is
associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria,
hypophosphatemia, rickets, and renal tubular dysfunction. --2004

An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and                    660
SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of
the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.
An irregularity in the number or structure of chromosomes, usually in the form of a gain                    612
(duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of
genetic material.
A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce             661
symptoms. However, the infection may be life-threatening in affected immunocompromised
patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is
characterized by the presence of intranuclear inclusion bodies.
A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the                662
cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.

An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It 663
is characterized by the development of yellow-brown keratotic skin papules in the neck, ears,
forehead, chest, back and groin. It is associated with fragility of the free margins of the nails.

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum,          664
mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
An inherited or acquired condition characterized by the complete loss of the ability to hear from one 665
or both ears.
A blood clot (thrombus) in a deep vein in the thigh or leg.                                           232

A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is              666
associated with mental and growth retardation, prominent ears and ptosis.
A rare genetic syndrome characterized by the deletion of the long arm of chromosome 18. It is               667
associated with short stature, hypotonia, mental retardation, and hand, foot, skull and facial
abnormalities.
Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes   378
include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.
An acute infection caused by Dengue virus. Signs and symptoms include sudden onset of fever,                668
headache, rash, arthralgia, and myalgia. It is transmitted through mosquitoes.
A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness        669
followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.

A congenital tooth development disorder caused by mutations in the DSPP gene. The teeth are                 670
weak, discolored, and translucent.
A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the                  671
presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex
disorders.
A melancholy feeling of sadness and despair.                                                                379

An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation.         380
Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.

A chronic autoimmune skin disorder characterized by the development of pruritic papulovesicular             672
and bullous lesions in the elbows, knees, buttocks, and back. It is associated with an increased
expression of HLA-A1, HLA-B8, and HLA-DR3 antibodies.
A rare congenital abnormality in which the heart is located in the right side of the chest. It is           673
associated with other congenital heart defects.
Organ or tissue damage due to diabetes mellitus. It includes heart disease and stroke, renal                305
disease and renal failure, retinopathy, neuropathies, and erectile dysfunction.
A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst.           674
Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic
hormone. It may also be drug-related.
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished                  306
production of insulin or insulin resistance/desensitization.
A group of disorders affecting the eye in patients with diabetes mellitus. It includes cataract,            307
glaucoma, retinopathy, and blindness.
Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients            308
with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.

A rare congenital demyelinating disorder affecting the central nervous system. It is characterized by 676
a demyelinating destructive lesion affecting an entire brain lobe or hemisphere. Signs and
symptoms include dementia, cortical deafness and blindness, pseudobulbar palsy, and hemiplegia.

A rare degenerative disorder that affects the spine. It is characterized by ossification of ligaments 677
resulting in calcifications along the sides of the spinal vertebrae.
An inherited disorder characterized by the development of keratotic lesions on the palms and soles. 678
It appears in childhood as redness on the palms and soles which progresses to well demarcated,
thickened, yellowish and waxy lesions.
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart             679
disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include
conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge
syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.

A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency     680
or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder
may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-
fluorouracil.
Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right         681
ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or
alcohol abuse. It is a cause of congestive heart failure.
A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces                    682
microfilariae in the blood and body fluids.
A group of genetic degenerative muscle disorders affecting the muscles of the lower arms, hands,            683
lower legs, and feet.
An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include           383
abdominal pain, fever, and leukocytosis.
A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene.               684
Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick
lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia.

A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 685
21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from
individual to individual and may include mental retardation, retarded growth, flat hypoplastic face
with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix,
fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet,
stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with
Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms
of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004

A parasitic infection caused by Dracunculus medinensis. It is caused by drinking water                      686
contaminated with water fleas. The larvae enter the body through the intestine. Signs and
symptoms include pain, edema, blisters, and ulcers.
Damage to the liver tissue due to drug overdose.                                                            312

A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a                687
deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign
body presence in the eye.
A rare disorder affecting the muscles of the eye. It is characterized by an abnormal contraction of 688
some eye muscles and failure of contraction of other eye muscles. It leads to limited abduction and
adduction of the affected eye.
An inherited autosomal recessive disorder characterized by the presence of mild jaundice due to     689
abnormalities in the bilirubin transportation from the liver parenchyma to the biliary system.

An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. 690
It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the
lower extremities and eventually affecting the whole body. It affects males whereas females can be
carriers. The symptoms start before the age of six and may appear at infancy.

A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by          691
myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts.

A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by          692
muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities.

A congenital heart malformation characterized by apical displacement of the opening of the           693
tricuspid valve. It is often associated with other congenital heart malformations.
A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a 694
malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and
trunk and usually presents as an ulcerative plaque. It is characterized by the presence of
intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and
metastasize to the lymph nodes and less frequently to distal anatomic sites.

A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. 695
It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys.
Rupture of the cysts may lead to shock.
A group of inherited disorders characterized by malformations of the structures that derive from the 696
ectoderm, such as hair, teeth, nails and sweat glands.
A congenital defect characterized by the absence or hypoplasia of one or more extremities.             697

An inherited connective tissue disorder characterized by loose and fragile skin and joint                698
hypermobility.
A syndrome characterized by the reversal of a septal defect-associated left-to-right shunt due to the    384
resulting secondary pulmonary hypertension. The presence of the pulmonary hypertension causes
increased pressure in the right heart chambers resulting in the reversal of the shunt into a right-to-
left shunt. Signs and symptoms include cyanosis, pulmonary hypertension, heart failure, and high
red blood cell count.
A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by          699
dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased
frequency of congenital heart malformations.
An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly            700
progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of
the elbow, ankle and neck.
A syndrome characterized by flattening or regression of the pituitary gland within the sella turcica     701
cavity, resulting in an MRI image of an empty sella turcica. Signs and symptoms are secondary to
pituitary gland hypofunction.
An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and        702
less frequently bacterial infections, toxins, and immune-mediated processes.

A congenital neural tube closure defect resulting in the protrusion of the brain through a skull         703
opening. When the protrusion includes the meninges, the term encephalomeningocele is used.
A rare benign disorder characterized by lack of normal endchondral ossification, and the growth of 704
multiple enchondromas. It primarily affects the bones of the hand, in children and young adults.
Extent of the disease varies; in some cases, neoplastic involvement may be wide spread causing
considerable deformity.
A disorder characterized by irreversible damage to the liver tissue, leading to complete liver failure. 313
Causes include cirrhosis, viral hepatitis, metastases to the liver, genetic disorders, toxins, and
drugs.
A bacterial infection caused by Rickettsia typhi or Rickettsia felis. It is transmitted to humans from 705
infected rat fleas. Symptoms include fever, headache, joint and muscle pain, and weakness.

Inflammation of the endocardium.                                                                         233

A malignant, infiltrating mesenchymal tumor arising from the uterine corpus, cervix, vagina, and the 706
ovary. Based on its morphologic characteristics, it is classified as either a low grade or an
undifferentiated (high grade) stromal sarcoma. The low grade endometrial stromal sarcoma is
characterized by the presence of oval to spindle-shape cells that resemble the cells of the
endometrial stroma, without evidence of significant atypia and pleomorphism. Numerous small
vessels are also present. The undifferentiated stromal sarcoma is characterized by an aggressive
clinical course, the presence of significant cellular atypia, pleomorphism, and high mitotic activity.

The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often 386
occurs in the pelvic organs.
Inflammation of the small intestine.                                                                  707

A clinical variant of Langerhans cell histiocytosis characterised by unifocal involvement of a bone      708
(most often), skin, or lung. Patients are usually older children or adults usually presenting with a
lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is
characterised by the presence of Langerhans cells in a characteristic milieu which includes
histiocytes, eosinophiles neutrophiles, and small, mature lymphocytes.
A slow growing tumor of children and young adults, usually located intraventricularly. It is the most    709
common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid
pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes.

A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected        710
with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain,
malaise, and macular skin lesions. The infection may affect the central nervous system causing
encephalitis.
An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 711
5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters.
The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.

A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal                712
blisters in the skin and the mucous membranes.
A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is                713
characterized by the formation of blisters and scarring in the skin and mucous membranes.
A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by          714
the formation of blisters and increased fragility of the skin.
An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10                  715
genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin
fragility.
A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis      716
in the palms and soles resulting in abnormal thickening of the skin in these areas.
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in 717
transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These
episodes may or may not be associated with loss of consciousness or convulsions.

A hemangioma characterized by the presence of epithelioid endothelial cells.                              718

A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly     720
children and is characterized by the development of a bright red skin eruption in the cheeks. It is
followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey
pattern.
A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.              721
Mutations in GJB3 and GJB4 genes have been identified as causative agents.
A rare disorder characterized by periodic inflammation and blockage of the vessels of the                 722
extremities, resulting in skin redness, swelling, and burning pain in the affected sites. It may
manifest as a primary disorder caused by mutations of the SCN9A gene or as a secondary disorder
due to hematologic disorders or medication side effects.
A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme                   723
biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results
in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.

A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme           724
biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include
painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas,
erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.

A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in 725
difficulty swallowing food.
A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of      146
esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This
type of cancer is associated with excessive ethanol and cigarette usage.

A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic            147
evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum
called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20,
and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common
clinical symptoms.
A condition characterized by an abnormally high level of thrombi. Causes include thrombotic               234
thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and
antiphospholipid antibody syndrome.
A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant   727
pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis,
scrotum, and vulva.
Any deviation from the normal structure or function of the eye that is manifested by a characteristic     315
set of symptoms and signs.
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme            728
alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues.
Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy,
hypohidrosis, keratopathy, proteinuria, and renal failure.
A finding indicating the absence of balanced proportions between parts of the face.                       729

Progressive atrophy of the tissues that comprise half of the face.                                        730

Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by       387
damage to the seventh cranial nerve. It is usually temporary but it may recur.
An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper            731
arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness
eventually spreads to other skeletal muscles as well.
A usually inherited blood coagulation disorder characterized by the lack of fibrinogen in the blood,     732
resulting in bleeding.
A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be              733
asymptomatic or manifest with bleeding.
A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor        734
XII. It may be asymptomatic or manifest with bleeding.
A carcinoma arising from the fallopian tube which is attached to the uterine corpus (uterine body).      148
Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen
symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid
adenocarcinomas.
A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign           735
neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of
malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.

A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves.             737

A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of           738
the central nervous system. It results in weakness and atrophy of the muscles which leads to an
inability to initiate and control voluntary movements.
An autosomal dominant disorder characterized by a history of multiple relapses and remissions of         739
pemphigus lesions.
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of           740
the sympathetic and parasympathetic and sensory nervous system.
Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the                  741
sarcomere, in the absence of predisposing conditions.
A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV            742
gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and
chest. The inflammatory attacks are associated with fever.
An autosomal dominant inherited disorder that appears in childhood or adolescence. It is                 743
characterized by loss of adipose tissue in the extremities and accumulation of adipose tissue in the
face and neck.
A group of genetic neurological disorders caused by mutations in genes involved in the sodium and        744
calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the
affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes
the affected muscles usually work normally.
An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal                   235
abnormalities, and an increase incidence of development of neoplasias.
A genetic or acquired disorder characterized by impairment of the function of the proximal tubules       746
of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other
nutrients.
A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by           747
mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues.
Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a
hoarse voice. It may be associated with intellectual disability.
A very rare autosomal dominant inherited sleep disorder caused by a mutation in the gene                 748
responsible for the prion protein. It affects individuals usually in their fourth decade. Its initial
manifestation is difficulty in falling asleep. It is followed by complete inability to sleep. Patients
develop deterioration of their mental and motor functions and die soon after the first symptoms
appear, because of the total absence of sleep.
A syndrome characterized by the presence of rheumatoid arthritis, splenomegaly, and                      749
granulocytopenia. Patients are at an increased risk of infection because of the low white cell counts.
A syndrome that can develop in infants whose mothers consumed alcohol during pregnancy.                  750
Manifestations of this syndrome include low birth weight, failure to thrive, developmental defects,
organ dysfunction, mental deficiencies, behavioral problems and poor motor coordination.

A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the        751
arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal
arteries. It can cause hypertension and aneurysm formation.
A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by             752
atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb
malformations.
A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses,     316
and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or
nephritic syndrome and it may lead to renal failure.
A chronic inflammatory skin disorder characterized by pruritic papular eruptions in areas with           754
apocrine glands. It usually affects the axillae bilaterally. There is rupture of the apocrine ducts
resulting in inflammation and formation of the papular skin lesions.
A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression          755
of the fragile X mental retardation 1 protein. This protein participates in neural development. This
syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.

An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized 756
by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include
gait and balance disturbances, lack of limb coordination, and speech disturbances.

A syndrome caused by progressive degeneration of the frontal or temporal lobes of the brain. It is       757
manifested with personality changes and deterioration of the language skills.
An autosomal dominant, bilateral, slowly progressive degeneration of corneal endothelial cells with      758
thickening of Descemet's membrane and accumulation of excrescences. It results in corneal
edema and loss of vision.
An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-                   759
fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include
psychomotor retardation, dysostosis multiplex, and neural disturbances.
Infection with anaerobic gram-negative bacteria of the genus Fusobacterium. It results in abscess        760
formation and tissue damage.
An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1,              761
and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of
galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and
renal failure.
A malignant tumor arising from the epithelium of the gallbladder. It is associated with the presence     149
of gallstones. Clinical symptoms are not specific and usually present late in the course.
Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas,
adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also
occur.
A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign              762
neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant
neoplasms include carcinoma, lymphoma, and sarcoma.
A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature              763
ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial
component and are considered to be WHO grade III. Rare cases of newly diagnosed
gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been
reported. (Adapted from WHO.)
A variant of familiar adenomatous polyposis. It is an autosomal dominant syndrome characterized          764
by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull,
epidermoid cysts, and fibromas. It is associated with mutation of the APC gene.
Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension,         765
scleroderma, and chronic renal failure. It may cause gastric bleeding.
A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are            150
adenocarcinomas, arising from the gastric glandular epithelium.
A mesenchymal neoplasm most commonly seen in the gastrointestinal tract. Cases involving                   766
tissues outside the gastrointestinal tract have also been reported (extragastrointestinal
gastrointestinal stromal tumor). It is a specific KIT-expressing and KIT-signaling-driven
mesenchymal tumor. Until recently, surgery has been the only effective therapy for this tumor.
However, many patients still experience recurrence. Conventional chemotherapy and radiation
therapy have been of limited value. A KIT tyrosine kinase inhibitor, imatinib mesylate (also known
as STI-571 or Gleevec), is now effective in the treatment of relapsed and unresectable cases. -
2003
Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents         317
into the small intestine.
A congenital birth defect characterized by the exposure of the fetal intestines outside the abdominal      767
wall through an abdominal wall opening.
An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It           768
results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the
bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly,
splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and
thrombocytopenia.
A deformity of the legs characterized by medial angulation, resulting in a bow appearance.                 769

A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the             770
prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs
and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the
disease progresses, patients develop speech difficulties and dementia.
A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It      771
is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include
difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the
limbs.
Gastritis characterized by hypertrophy of the gastric mucosa with creation of giant gastric folds. It is   772
associated with hypoalbuminemia due to albumin loss from the stomach. Signs and symptoms
include nausea, vomiting, abdominal pain, edema, and weight loss.
An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia,                773
resulting in harmless intermittent jaundice.
An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient            774
reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in
hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.

A rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is               775
characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex. It leads to defective platelet
aggregation, resulting in bleeding.
Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.                     388

The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated             151
neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear
atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It
typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from
diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more
frequently, it manifests after a short clinical history de novo, without evidence of a less malignant
precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell
glioblastoma and gliosarcoma. (WHO)
A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or         319
diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes,
and malignancies.
A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified           777
smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal
extremities.
An autosomal recessive inherited metabolic disorder caused by mutations in the AMT and GLDC             778
genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs
and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in    779
the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or
accumulation of glycogen in the tissues.
An autosomal recessive inherited type of glycogen storage disease. It is characterized by a            780
deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce
free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver
and kidneys.
An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the          781
enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart,
skeletal muscles, liver, and nervous system.
A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene          782
have been reported in association with this disease.
An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the          783
glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in
the heart, skeletal muscles, and/or liver.
A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6                784
transglucosidase.
An autosomal recessive inherited type of glycogen storage disease caused by deficiency of              785
myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance.

An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid 786
beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and
symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and
formation of angiokeratomas.
Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or 389
thyroid nodules. Symptoms include difficulty in breathing and swallowing.

A congenital birth defect characterized by incomplete development or absence of face structures,       787
usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip,
mandible, and/or soft palate.
An autoimmune disorder characterized by pulmonary hemorrhage and glomerulonephritis. It is a           788
hypersensitivity reaction resulting in the formation of antibodies against the pulmonary alveoli and
the basement membrane of the glomeruli.
A localized or generalized inflammatory skin disorder characterized by the formation of papules and 789
ring-shaped plaques in the skin. Morphologically these lesions are granulomatous inflammatory
processes with central necrosis surrounded by palisading histiocytes.

A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-        790
Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the
testicle. There are two types of granulosa cell tumor that can be distinguished under the
microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps
the most common congenital testicular neoplasms.
Hyperthyroidism associated with diffuse hyperplasia of the thyroid gland (goiter), resulting from       791
production of antibodies that are directed against the thyrotropin receptor complex of the follicular
epithelial cells. As a result, the thyroid gland enlarges and secrets increased amounts of thyroid
hormones. --2004
A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-      792
granules and their proteins in the peripheral blood platelets.
A congenital defect characterized by the abnormal positioning of any of the following vessels:          793
pulmonary artery, pulmonary vein, superior vena cava, inferior vena cava, and aorta.

A congenital or acquired occlusion of an opening in any part of the female genital tract.               794

A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is                795
characterized by progressive atrophy of the retina and choroid, leading to loss of vision and
blindness.
A rare neoplasm of small B-lymphocytes with ""hairy"" projections in bone marrow, spleen, and           797
peripheral blood. Most patients are middle-aged to elderly adults and present with splenomegaly
and pancytopenia. (WHO, 2001)
A benign condition affecting the dorsum of the tongue. It is characterized by defective                 798
desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry
appearance and is usually stained black.
A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities,      799
short stature, and bone flexibility.
A very rare syndrome characterized by multiple congenital abnormalities including abnormally            800
shaped head, mandibular hypoplasia, parrot nose, bilateral congenital cataracts, microphthalmia,
dwarfism and hypotrichosis.
A benign melanocytic nevus with a halo appearance.                                                      801

An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to 802
life-threatening respiratory problems.
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It 803
is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin
eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.

An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is      804
progressive destruction of the thyroid follicles leading to hypothyroidism.
A carcinoma of any tissue within the head and neck region.                                              152
An impairment of transmission of the cardiac electrical impulse along the fibers normally               236
responsible impulse propagation.
Any deviation from the normal structure or function of the cardiac system that is manifested by a       320
characteristic set of symptoms and signs.
Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements or       237
the ability to do so only at an elevated filling pressure.
A clinical finding referring to an extra, abnormal sound which is produced from the flow of blood       238
through a heart valve during a heart beat.
A life-threatening complication of pregnancy usually occurring in women with preeclampsia or            805
eclampsia. It is characterized by hemolytic anemia, elevated liver enzymes, and low platelet count.
Signs and symptoms include headaches, nausea, vomiting, blurred vision, and upper abdominal
pain. It may lead to diffuse intravascular coagulation and acute renal failure.

A parasitic infection characterized by the infestation with worms, mainly in the intestine.             806
A mesenchymal tumor composed of dilated vascular spaces (some with a staghorn or bifed shape) 808
throughout. The individual tumor cells are surrounded by reticulin everywhere, are negative for
muscle, nerve sheath, and epithelial markers, and are positive for CD34 and CD99. The biologic
behavior of hemangiopericytoma cannot always be predicted from the morphologic features. The 5-
and 10-year survival rates of malignant hemangiopericytomas have been reported to be 40% and
29% respectively (partially adapted from S. Sternberg's Diagnostic Surgical Pathology, 4th ed.,
2004).
An inherited metabolic disorder characterized by iron accumulation in the tissues.              239

A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.            810
This disorder is caused by a specific mutation in the beta-globin HBB gene, whereby a lysine is
substituted for a glutamic acid at the sixth amino acid in the protein.
An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin    811
molecule.
Anemia resulting from the premature destruction of the peripheral blood red cells. It may be             240
congenital or it may be caused by infections, medications, or malignancies.
A form of thrombotic microangiopathy with renal failure, hemolytic anemia, and severe                    812
thrombocytopenia.
A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and   813
macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be
inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs
and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.

A deficiency or abnormality of a blood coagulation factor characterized by the tendency to         241
spontaneous or exaggerated post-traumatic hemorrhage, Hemophilia is typically a hereditary
disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include
hemophilia A or classic hemophilia (factor VIII deficiency) hemophilia B or Christmas disease
(factor IX deficiency), and hemophilia C (factor XI deficiency). In individuals without hereditary
hemophilia A, factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in a
condition known as 'acquired hemophilia.' Approximately 10 % of patients with acquired hemophilia
have an underlying malignancy.
An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or 814
exaggerated post-traumatic hemorrhage. Inherited as an x-linked recessive disease, hemophilia A
is the most common hemophilia, occurring in approximately 1 in 10,000 male births.

An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.               815

A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is        816
manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches,
abdominal and back pain, and blurred vision.
A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A            817
deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin,
gastrointestinal symptoms, arthritis, and nephropathy.
Any disease or dysfunction of the liver and the intrahepatic bile ducts.                                 321

Inflammation of the liver; usually from a viral infection, but sometimes from toxic agents.              390

Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually     391
contracted through close contact with an infected individual or their feces, contaminated food or
water.
A viral infection caused by the hepatitis B virus.                                                       322

A viral infection caused by the hepatitis C virus.                                                       323
A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in      153
older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed,
and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively
of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component
that may be undifferentiated or develop into bone or cartilage. The treatment of choice for
hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being
increasingly used as well.
A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the    154
United States but very common in all African countries south of the Sahara and in Southeast Asia.
Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger
individuals and even in children. Hepatocellular carcinoma is more common in males than females
and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation
of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly,
hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver
involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well
differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to
regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is
about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of
the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.

A very rare form of porphyria cutanea tarda. It is characterized by deficiency of the enzyme              819
uroporphyrinogen III. Signs and symptoms appear early in childhood and include extreme
photosensitivity in the sun exposed areas of the skin with blistering and scar formation.
A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is                820
characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver
failure, neurologic, and psychotic manifestations.
Autosomal dominant inherited disorder characterized by abnormalities of C1 inhibitor. Patients            821
present with swelling of the skin, subcutaneous tissues, and mucosa sites.
Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients           822
present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary
angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the
C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated.

An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the              823
enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal
pain, constipation and psychiatric manifestations.
A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This             824
enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion
are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term
complications include hepatic and renal failure.
A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme                       825
deficiencies, or hemoglobinopathies.
An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4               826
genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes,
lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.

An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in 830
the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar
syndrome.
A melanoma defined by the presence of multiple cases of cutaneous melanoma among blood-                     827
relatives on the same side of the family. It is caused by germline mutations in the CDKN2A or
CDK4 genes. It is associated with an increased risk of pancreatic cancer in a subset of CDKN2A
families (WHO, 2006).
An autosomal dominant inherited disorder characterized by thickened and spongy oral mucosa with 828
a white tint. It may affect other anatomic sites as well.
An autosomal dominant hereditary neoplastic syndrome characterized by the development of                  829
colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma,
ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop
colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions
arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is
present.
A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency,          831
and lung disorders such as pulmonary fibrosis.
An organism having both male and female sexual characteristics and organs.                                832

A serious viral disorder characterized by infection of the brain by herpes simplex virus type 1 or 2.     833
Herpes simplex virus type 1 affects adults, whereas herpes simplex virus type 2 affects newborns.
Signs and symptoms include fever, headaches, vomiting, seizures and psychiatric manifestations.

A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is          834
characterized by intense otalgia and a cutaneous vesicular eruption.
A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized         835
by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron
accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation,
liver failure, heart failure, and hypogonadism.
A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and           836
nodular hidradenoma.
Moderate or severe dysplasia of the cervical squamous epithelium.                                         155

A cholangiocarcinoma arising from the hilar ducts located at the hilar area of the liver.                 837

A benign and self-limited localized disorder characterized by histiocytic proliferation and necrotic 838
changes in the lymph nodes. It is rarely associated with lupus erythematosus. Signs and symptoms
include localized lymphadenitis, fever, and leucopenia.
A rare genetic inherited disorder characterized by inability of the body to process the amino acid   839
leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.

A lymphoma, previously known as Hodgkin's disease, characterized by the presence of Reed-                156
Sternberg cells. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin
lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma has a bimodal age distribution,
and involves primarily lymph nodes. Current therapy for Hodgkin lymphoma has resulted in an
excellent outcome and cure for the majority of patients.
A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The           841
syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused
by damage to postganglionic parasympathetic fibers innervating the eye.
A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is 842
associated with craniofacial abnormalities, developmental abnormalities, and seizures.

An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR,           843
MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is
associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine
in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.

An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate 844
sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects
males and is characterized by the accumulation of mucopolysaccharides in various organs,
resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart
disease, and hepatosplenomegaly.
A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion.            845
Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance
problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a
decline in mental abilities, and the development of psychiatric problems.

An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most          846
severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-
L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.

A serious disorder affecting newborns, particularly premature infants. It is caused by deficiency of       847
surfactant, resulting in the formation of a membrane in the alveoli lining. This membrane contains
fibrin and cellular debris and interferes with respiration. Infants with this disorder develop breathing
problems immediately or in a few hours after delivery. It may lead to respiratory failure.

A gestational disorder characterized by an abnormal placenta with marked enlargement of the                848
chorionic villi and hyperplasia of the villous trophoblastic cells. According to the amount of villous
involvement, a hydatidiform mole is defined as complete or partial. Most molar pregnancies are
complete and are characterized by generalized hydropic villous changes. Partial moles are
characterized by a mixture of large hydropic villi and normal placenta tissue. Complete moles are
usually diploid and typically present between the eleventh and twenty-fifth week of pregnancy,
whereas partial moles are usually triploid and usually present around the nineteenth week of
pregnancy. The incidence of choriocarcinoma is higher in patients with complete hydatidiform
mole. When a hydatidiform mole invades the myometrium and broad ligament, or it is found in
distant sites as vagina, vulva, and lung, it is referred as invasive mole.

A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by 849
the formation of vesicles and scarring on sun exposed areas.
A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the       850
brain.
A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. 851
Causes include Rh incompatibility, congenital heart defects, and chromosomal abnormalities.

A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When 852
symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.

A rare autosomal recessive disorder characterized by abnormalities in the urea cycle. It is caused 853
by deficiency of the enzyme arginase, resulting in increased levels of arginine in the plasma and the
cerebrospinal fluid. It affects the nervous system.
A laboratory test result indicating an increased amount of cholesterol in the blood.                  242

A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional           854
deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition
are at an increased risk for recurrent blood clots formation and cardiovascular accidents.

A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein             855
(apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the
blood.
A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in      1299
the blood. It is caused by elevation of low density and very low density lipoproteins.

A condition of unknown etiology characterized by thickening of the inner table of the frontal bone of 856
the skull. It is seen more often in females and is usually bilateral.
An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. 394
Pathological increase in blood pressure; a repeatedly elevated blood pressure exceeding 140 over 243
90 mmHg.
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is 857
generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.    858

Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the 859
red cells have an area of central pallor which is increased in size. The leading cause is iron
deficiency.
An autosomal dominant inherited or genetic disorder characterized by irregular episodes of muscle 860
weakness or paralysis which are always accompanied by low levels of potassium in the blood.

An endocrine disorder characterized by decreased production of parathyroid hormone by the             861
parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck
surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails,
cataracts, tetany, and convulsions.
A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific       862
alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum.
The signs and symptoms vary significantly and include death in utero, failure to thrive, premature
loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal
defects, renal stones, and movement disorders.
A condition of diminution or cessation of secretion of one or more hormones from the anterior         863
pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary
neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous
processes, and other conditions.
Any blood pressure that is below the normal expected for an individual in a given environment.        244

A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin.    864
The skin changes range from mild to severe.
A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an     865
erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and
hyperkeratotic.
The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder        866
characterized by scaling and desquamation of the skin.
A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes        867
below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients
with this syndrome are at an increased risk of opportunistic infections.

A rare sleep disorder characterized by prolonged sleep at night and extreme sleepiness during the     868
day. There are no apparent causes. This disorder affects the ability to function.
Chronic and progressive fibrosis of the lung parenchyma of unknown cause.                             245

An autoimmune disorder in which the number of circulating platelets is reduced due to their           246
antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.

A chronic autoimmune glomerulonephritis characterized by the deposition of immunoglobulin A in        871
the mesangium of the glomeruli. It is manifested with hematuria and mild proteinuria.

Inflammation of the ileum.                                                                            872

Immunodeficiency caused by mutations in the gene encoding the CD40 ligand. It is characterized      873
by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an
increased risk of infections and development of malignancies.
A congenital birth defect characterized by the absence of a normal anal opening. It may be                874
associated with other congenital abnormalities.
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes                875
necessary for the urea cycle. It results in accumulation of ammonia in the body.
An acquired or hereditary chronic inflammatory disorder of the muscles characterized by the               876
morphologic finding of vacuoles and filamentous inclusions in the muscle tissues.
A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities,         877
alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial
blistering rash, to wart-like lesions, and eventually to hypopigmentation.

A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. 878
It is characterized by the development of swellings called spehroids along the axons of the central
nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle
hypotonia and spasticity, and dementia.
A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in  879
accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include
retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia,
ataxia, nystagmus, facial deformities, and mental and growth retardation.

A localized protective response resulting from injury or destruction of tissues. Inflammation serves      326
to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase,
inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function.
Histologically, inflammation involves a complex series of events, including dilatation of arterioles,
capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including
plasma proteins; and leukocyte migration into the site of inflammation.

An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in 880
the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an
orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable
mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive
breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by
malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not
significant inflammatory cell infiltrate present, despite the name of this carcinoma.

A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.                   247

Inflammation of the urinary bladder wall leading to urinary frequency, urgency, and discomfort,       329
pelvic pain, and pain during intercourse. Morphologically it is characterized by a transmural bladder
inflammatory infiltrate containing mast cells.
A malformation characterized by the absence of a normal opening in a part of the intestine. It can    881
occur either in the small or the large intestine.
A finding characterized by increased cerebrospinal fluid pressure within the skull.                   882

A group of disorders characterized by the presence of an abnormal inner layer of the cornea. This         883
abnormality results in iris distortion, corneal swelling, pupil distortion, and glaucoma. It usually
affects only one eye.
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic   248
blood loss.
A common syndrome manifested by symptoms of bloating, abdominal cramping, constipation,                   330
and/or diarrhea. In most patients the symptoms are not severe and they can be controlled with diet,
stress, and lifestyle management. A small percentage of individuals may experience severe
symptoms. The cause is unknown.
A benign endocrine neoplasm arising from the pancreas. It is separated from the normal pancreatic         884
tissues by a thin collagenous capsule. It may secrete a hormone (e.g. insulin, gastrin) or it may be
non-functional.
A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is          886
characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set
ears, strabismus, trigonocephaly, and thrombocytopenia.
Viral encephalitis caused by the mosquito-born Japanese encephalitis virus. Signs and symptoms        887
include an initial period of fever, headaches, and malaise, followed by neck rigidity, hemiparesis,
and convulsions. It may lead to coma.
An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1                  888
genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT
syndrome.
A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and       889
respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral
microcystic renal disease which may lead to renal failure.
A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis.          890
Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements,
mental retardation, and ataxia.
A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation     891
principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the
bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen,
lymph nodes, skin, and respiratory tract are the most common sites of involvement. The prognosis
is usually poor. (WHO, 2001)
An epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes        892
absence seizures. It appears during adolescence.
A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.                  893

A chronic parasitic infection affecting the viscera and caused by Leishmania donovani. Signs and      894
symptoms include fever, anorexia, fatigue, lymphadenopathy, anemia, and hepatosplenomegaly. If
left untreated it may lead to death.
An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic                  895
hypogonadism and anosmia.
A malignant neoplasm characterized by a vascular proliferation which usually contains blunt           157
endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The
most frequent site of involvement is the skin; however it may also occur internally. It generally
develops in people with compromised immune systems including those with acquired immune
deficiency syndrome (AIDS).
A rare autosomal recessive inherited syndrome characterized by situs inversus, bronchiectasis, and    897
chronic sinusitis. There is a defect in the function of the cilia that line the respiratory tract.

A vasculitis characterized by inflammation of the arteries, particularly the coronary arteries. The  249
vasculitis may lead to aneurysm formation and possibly, heart attacks. It affects young children who
usually present with persistent high fever, redness of the mucous membranes of the mouth,
redness of the palms and soles, skin rashes, lymphadenitis, and joint pain and swelling.

A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading     899
to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss,
ataxia and short stature.
A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It         900
represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic
distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas
affect males more frequently than females and the majority tend to regress spontaneously. It has
been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of
the skin.
A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the      901
cornea. It may lead to visual disturbances.
A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by        902
existing high levels of unconjugated-indirect bilirubin.
A rare disorder characterized by episodes of excessive sleep and behavioral alterations while           903
awake. It affects predominantly males. The individuals exhibit normal behavior between episodes.

A sex chromosome disorder caused by the presence of an extra X chromosome in the male                 904
karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have
tall stature and long legs and may have difficulties with speech and language development.
Gynecomastia may be present.
A rare syndrome characterized by the presence of port-wine stain (a vascular malformation),           905
varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one
extremity, most commonly a leg.
A rare syndrome resulting from damage to both temporal lobes of the brain. Signs and symptoms         906
include oral exploratory behavior, docility, altered sexuality, dietary changes, and visual agnosia.

A psychotic syndrome caused by damage to the brain by lack of thiamine (vitamin B1). Signs and          907
symptoms include anterograde and retrograde amnesia, confabulation, apathy, ataxia, and coma.

A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is      908
characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid
cells. Signs and symptoms include irritability, mental and motor developmental disturbances,
muscle weakness, seizures, blindness, and deafness.
Metastatic signet-ring cell carcinoma to the ovary from a gastrointestinal tract or breast primary    909
tumor.
A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and 910
EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in
many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain
mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.

A rare autoimmune presynaptic disorder characterized by impairment of the impulse transmission 911
at the neuromuscular junction. It affects predominantly the proximal muscles of the lower
extremities, resulting in muscle weakness and fatigability. It has been associated with small cell
lung carcinoma.
A very rare, autosomal recessive inherited skin disorder present at birth. It is characterized by the 912
presence of a transparent membrane encasing the newborn. This membrane sheds in about two
weeks after birth to reveal generalized scaling and skin erythema.
A rare childhood syndrome characterized by the progressive or sudden inability to understand and 913
use spoken language (aphasia) and paroxysmal electrical brain waves. Patients develop epileptic
seizures and behavioral changes.
A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural      914
examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-
Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the
number of organs affected at presentation. (WHO, 2001)

A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum       915
without evidence of accompanying signs or symptoms related to the disease.
A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is      916
characterized by sensory defects affecting the same side of the face as the infarct and the opposite
side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.

A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal 917
ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It
may initially affect one eye only, but eventually the central loss of vision becomes bilateral.

A disorder of lipoprotein metabolism caused by mutations in the LCAT gene. It is characterized by       918
deficiency of the enzyme lecithin cholesterol acyltransferase. It is manifested with corneal opacity,
hemolytic anemia, and proteinuria.
An inherited disorder affecting the nervous system, caused by genetic mutations in the                      919
mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in
infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone,
and seizures.
A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle                 158
cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-                        920
menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic
variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.

A parasitic infection caused by protozoa of the genus Leishmania. It is transmitted to humans via         921
the bite of sandflies. There are three main forms of the disease: cutaneous, mucocutaneous, and
visceral leishmaniasis. Cutaneous leishmaniasis causes skin ulcers; mucocutaneous leishmaniasis
causes destructive lesions of the mucous membranes of the nose, mouth, and throat; visceral
leishmaniasis is the most severe form of the disease and is manifested with anemia, weight loss,
hepatomegaly and splenomegaly.
A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic                 922
episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental
retardation and behavioral problems.
A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by               923
the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities,
ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and
deafness.
A bacterial granulomatous infection caused by Mycobacterium leprae. It is a progressive disease           924
affecting the skin, peripheral nerves, and limbs. If untreated, it causes permanent tissue damage
leading to autoamputations.
A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are                925
infected by contact with water and soil which have been contaminated with animal waste products.
The signs and symptoms include an initial flu-like phase, followed by a second phase in which
patients may develop meningitis, liver failure and renal failure.
An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme                    926
hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body.
It affects males and is characterized by neurologic defects, moderate mental retardation, muscle
hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips).

A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by 159
the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.
Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the
predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic
episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic
myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic
lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute
leukemias is normally measured in weeks or months, while that of chronic leukemias is more often
measured in months or years.

A progressive form of dementia characterized by the presence of protein deposits called Lewy       927
bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The
signs and symptoms overlap with Alzheimer and Parkinson disease.
A chronic inflammatory process affecting the skin. It is characterized by the presence of white,   928
indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the
vulva and penis.
An autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive        929
sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis,
low plasma renin and hypoaldosteronism.
An autosomal dominant hereditary neoplastic syndrome caused by an alteration in the p53 tumor                  930
suppressor gene. It is characterized by the development of malignant neoplasms at various
anatomic sites. The malignant neoplasms associated with Li-Fraumeni syndrome include adrenal
cortex carcinoma, astrocytic tumors, colorectal carcinoma, gastric carcinoma, malignant breast
neoplasms, medulloblastoma, osteosarcoma, and soft tissue sarcomas.

A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies                     931
affecting the muscles of the hips and shoulders.
A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes                  932
include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome,
most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes,
hallucinations and dementia.
A rare, autosomal recessive metabolic disorder characterized by hoarseness of voice, eyelid                    933
beading, skin lesions, and seizures.
A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.                    399

A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain 160
a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.
Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and
myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors.

A carcinoma arising from the liver or intrahepatic bile duct. The main subtypes are hepatocellular             161
carcinoma (hepatoma) and cholangiocarcinoma.
A spectrum of liver disorders that develop in patients with cystic fibrosis. It includes asymptomatic          333
elevation of the liver function tests, steatosis, cholecystitis with cholelithiasis, sclerosing cholangitis,
biliary cirrhosis, and cholangiocarcinoma.
A non-invasive adenocarcinoma characterized by a proliferation of monomorphic cells completely                 162
filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in
some series) and bilateral. It seldom becomes invasive; however there is an increased risk of
infiltrating ductal adenocarcinoma.
A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results              934
in hardening and thickening of body tissues. Localized scleroderma typically affects the skin, with
formation of patches or lines of thick and unyielding tissue; there can be muscle and underlying
tissue involvement as well as occasional joint complications. The affected areas of skin can be
restrictive and disfiguring. The shape, depth and location of the affected area is used to classify one
of the four types of local scleroderma. An individual can have a combination of localized
scleroderma types.
A ventricular arrhythmia characterized by syncopal episodes and a long QT interval, sometimes                  250
leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated
with a prolongation of repolarization following depolarization of the cardiac ventricles. The
prolongation of the Q-T interval combined with torsades de pointes manifests as several different
forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden
cardiac death.
A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8.                935

A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines   163
the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell
carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell
carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and
can be difficult to distinguish from primary tumors.
An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, 400
lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants
include discoid and systemic lupus erythematosus.
A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively        937
females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid
cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs,
mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.

A benign neoplasm arising from the lymphatics. The tumor is composed of dilated lymphatic                    936
channels. Painless swelling is the usual clinical manifestation.
Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels   938
or lymph nodes.
A lymphoma composed of immature small to medium-sized precursor lymphoid cells                               193
(lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.
A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph              164
nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and
Hodgkin lymphomas.
An abnormally small number of lymphocytes in the circulating blood.                                          251

A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms                     939
include ataxia, spasticity, and abnormalities in the ocular movements.
A finding indicating enlargement of the tongue.                                                              940

Age-related loss of vision in the central portion of the retina (macula), secondary to retinal               401
degeneration.
An inflammatory reaction characterized by the presence of papules or nodules usually in the                  941
genitourinary tract. It is usually a reaction to an infection. Morphologically, it consists of foamy
histiocytes and characteristic basophilic inclusion bodies called Michaelis-Gutmann bodies.

A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium             942
that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to
humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating,
chills, and anemia.
A group of neural cortical developmental malformations of diverse genetic causes. Clinical             943
manifestations include epilepsy and developmental delays.
A rare disorder of unknown etiology. It may present as a cutaneous disorder with a benign clinical     944
course or a systemic disorder with a grim prognosis. Both the cutaneous and systemic variants are
characterized by the presence of papular skin lesions. The systemic variant, in addition to the skin
papules, is characterized by gastrointestinal manifestations including abdominal pain and
distention, nausea, vomiting, diarrhea, intestinal infarction, and intestinal perforation. The central
and peripheral nervous systems may also be involved in the systemic variant.

A primary or metastatic malignant neoplasm affecting the bones. Representative examples of                   165
primary malignant bone neoplasms include osteosarcoma, chondrosarcoma, and Ewing sarcoma.
Primary malignant bone neoplasms most often affect children and adolescents. Representative
examples of metastatic malignant neoplasms to the bones include carcinomas arising from other
anatomic sites and lymphomas.
A primary or metastatic malignant neoplasm affecting the brain.                                              166
A primary or metastatic tumor involving the structures of the eye (conjunctiva, cornea, uvea, retina),       167
the lacrimal gland, and the orbit. Representative examples are melanoma, carcinoma, lymphoma,
and retinoblastoma.
A pleomorphic sarcoma characterized by the presence of fibrohistiocytic cells and spindle cells              945
arranged in a storiform pattern.
A rare disorder characterized by rapid rise of the body temperature, accompanied by                          946
rhabdomyolysis and, if untreated, by collapse and death. It occurs in susceptible individuals who
receive certain drugs for general anesthesia, gas anesthetics, or succinylcholine. It may be
inherited in an autosomal dominant pattern.
A primary or metastatic malignant tumor involving the ovary. Most primary malignant ovarian             168
neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or
malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas,
lymphomas, and melanomas.
An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting        947
mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large
nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with
neurofibromatosis 1 (NF1).
Abnormal malignant growth of the cells that comprise the pineal parenchyma.                             169
A primary or metastatic tumor involving the skin. Primary malignant skin tumors most often are          170
carcinomas (either basal cell or squamous cell carcinomas that arise from cells in the epidermis) or
melanomas that arise from pigment-containing skin melanocytes. Metastatic tumors to the skin
include carcinomas and lymphomas.
A malignant neoplasm affecting the spleen. Representative examples include leukemias,                   171
lymphomas, and sarcomas.
Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.                172
A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal        948
tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was
initially described in alcoholics.
A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus,           949
headache, fever, arthralgias, and eosinophilia.
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT,               950
and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid
dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the
disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and
symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it
may lead to seizures, coma, and death.
A viral infectious disorder caused by Marburg virus. Signs and symptoms include fever, headache,        951
myalgias, chest and abdominal pain, jaundice, liver failure, massive hemorrhaging, and multiple
organ failure.
A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the           252
FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic
dilatation, aortic dissection, and sublaxation of the lens.
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-              954
acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness,
otitis media, and respiratory illnesses.
A variant of systemic mastocytosis with involvement of the bone marrow (20% or more mast cells)         955
and the peripheral blood (mast cells account for 10% or more of peripheral blood white cells).
(WHO, 2001)
A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of             624
neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of
neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive
neoplasms associated with organ failure and short survival.
A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting   956
ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or
complicated by hematuria, infections, or renal stones.
A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in        957
children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and
symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four
histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell
medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal
differentiation.
An autosomal dominant inherited corneal disorder caused by mutations in the KRT3 and KRT12                  958
genes. It is characterized by the formation of multiple tiny cysts in the epithelial layer of the cornea.
The cysts may rupture, causing pain, redness and light sensitivity. Vision usually is not affected.

Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called             959
megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include
toxins and drugs.
A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often,             173
melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes:
superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo
maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or
dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal
system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph
nodes, liver, lungs, and brain.
A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy,                      960
encephalopathy, lactic acidosis, and stroke-like episodes.
A rare syndrome characterized by recurrent facial nerve paralysis, edema of the lips and face, and          961
furrowed tongue.
A very rare bone disorder characterized by thickening of the cortex in a linear pattern. Signs and          962
symptoms include joint pain, joint swelling, limb deformity, and changes in the skin covering the
bone lesion.
A bacterial infection of the membranes covering the brain and the spinal cord caused by                     963
Mycobacterium tuberculosis.
An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport              964
and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia,
seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.
A developmental disorder characterized by less than average intelligence and significant limitations        402
in adaptive behavior with onset before the age of 18.
A rare malignant cutaneous tumor seen in elderly patients. Its usual location is on the head, neck          179
and extremities. The tumor is composed of small round cells with scanty cytoplasm arranged in a
trabecular pattern, or in ill-defined nodules or in a diffuse pattern. The tumor cells contain
cytoplasmic membrane-bound dense core granules resembling neurosecretory granules.

A very rare mitochondrial abnormality characterized by myoclonic epilepsy and the microscopic               965
finding of ragged-red fibers in muscle tissues.
A usually malignant and aggressive neoplasm of the mesothelium which is often associated with               174
exposure to asbestos.
A term referring to a combination of medical conditions that, when present, increase the risk of            253
heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased
blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose.

An autosomal recessive inherited disorder characterized by abnormalities in the development of the 967
myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of
this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle
weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form
symptoms include gait disturbances, mental deterioration and seizures. The adult form is
characterized by psychotic symptoms and dementia.

A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of 969
the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs
and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash,
hepatosplenomegaly, and lymphadenopathy.
A systemic necrotizing vasculitis that typically affects the small and medium-sized muscular                  970
arteries. In some cases, however, microscopic vessels are also affected (e.g., in the kidneys), a
condition that has been called microscopic polyarteritis or polyangiitis; this disorder is felt to be
more closely associated with Wegener's granulomatosis than to classic polyarteritis nodosa.

A protozoal parasitic infection caused by Microsporidia. It occurs in immunocompromised patients,             971
causing diarrhea and wasting.
A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot              972
processes. Light microscopic examination does not show glomerular changes. Patients present
with proteinuria and nephrotic syndrome.
A liver disorder caused by primary or secondary defects in the function of the mitochondria in the            337
hepatocytes.
A fairly common and often benign valvular heart disorder characterized by redundancy or hooding               254
of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It
is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue,
dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular
tachycardia.
An autoimmune overlap syndrome characterized by the presence of symptoms of systemic lupus                    973
erythematosus, systemic scleroderma, and polymyositis.
A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized           974
by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally.

A rare autosomal dominant inherited hair shaft disorder caused by mutations in the type II keratin            975
gene. It is characterized by the presence of thin, fragile hairs that appear beaded.
A laboratory test result indicating the presence of an abnormally high level of monoclonal                    403
immunoglobulins in the blood or urine.
A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the               175
serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS)
progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various
carcinomas, chronic inflammatory and infectious conditions, and other diseases.

A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated                  404
damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders
such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa,
rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be
associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia,
hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and
acquired immunodeficiency syndrome.

A rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal                       976
developments, dwarfism, heart disorders, and central nervous system deficits.
A rare inherited vascular disorder characterized by constriction of arteries at the base of the brain,        977
resulting in the formation of collateral circulation in order to compensate for the constriction. The
name "moyamoya" in Japanese means "puff of smoke" and derives from the characteristic
radiographic appearance of the collateral vessels.
A group of inherited lysosomal storage diseases characterized by accumulation of lipids and                   978
carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.

An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is 979
characterized by psychomotor developmental delays and ophthalmologic abnormalities.

The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. 980
It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler
syndrome) and the mildest form (Scheie syndrome).
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme                981
heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental
developmental delays and seizures.
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-             982
acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and
mental developmental delays.
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-        983
CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep
disturbances, and mental developmental delays.
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-             984
acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and
mental developmental delays.
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme                985
galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta           986
galactosidase. It is characterized by skeletal dysplasia and short stature.
A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is              987
characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened
cheekbones, and wide-set eyes.
A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2           988
and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or
carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary
tract.
An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is                989
characterized by marked growth retardation and abnormalities in multiple organs including heart,
liver, muscle, eyes, and brain.
A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.             990

A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, 991
and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron
transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities,
hepatomegaly, metabolic acidosis, and hypotonia.
An autosomal dominant inherited neoplastic syndrome characterized by the development of various 992
endocrine neoplasms and abnormalities in various anatomic sites. There are three types
recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A
(MEN 2A), caused by mutation of the RET gene, and type 2B (MEN 2B) also caused by mutation of
the RET gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland
adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.
Patients with MEN 2A develop medullary thyroid carcinomas, and may also develop
pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary
thyroid carcinomas and numerous neural defects including neuromas.

Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients 993
may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas,
pancreatic islet cell neoplasms, and carcinoid tumors.
Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary      994
thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.

Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary            995
thyroid carcinomas and numerous neural defects including neuromas.
A neoplastic chondrogenic process affecting multiple sites. Grossly and microscopically it             996
resembles an osteochondroma.
A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. 405
Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.

A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is              997
characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic
damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis.

A rare neurodegenerative disorder characterized by loss of autonomic nervous system functions              998
and disturbances of motor, balance and muscle coordination.
A group of inherited progressive muscle disorders characterized by muscle weakness and eventual            999
death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular
dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-
girdle muscular dystrophy.
A peripheral (mature) T-cell lymphoma presenting in the skin with patches/plaques. It is                   1000
characterized by epidermal and dermal infiltration of small to medium-sized T-cells with cerebriform
nuclei. Patients with limited disease generally have an excellent prognosis. In the more advanced
stages, the prognosis is poor. (WHO, 2001)
A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or         176
more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in
myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the
requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result
of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)

A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary                1002
sites or the bone. (WHO, 2001)
Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in       255
coronary thrombosis.
A disorder characterized by involuntary and irregular muscle contractions not associated with              1003
muscle weakness or atrophy. It most often affects facial muscles. It may be localized or
generalized.
An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and           1004
autoimmune disorders.
A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt        1005
trauma and bleeding in the deep soft tissues.
A genetic congenital neuromuscular disorder affecting the skeletal muscles. It is caused by                1006
mutations in the chloride channel gene (CLCN1 gene). It is characterized by muscle stiffness,
hypertrophy, pain, and cramping.
An inherited or acquired, localized or generalized disorder affecting the muscles. It may be               1007
associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized
by delayed muscle relaxation following stimulation or contraction. Representative examples include
myotonia congenita and myotonic dystrophy.
An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and         1008
hypotonia, cataracts, heart conduction defects and endocrinopathies.
A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized              1009
by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial
heads, nephropathy, and glaucoma.
A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs          256
even after an adequate sleep in the nighttime. The persons who suffer from this condition
experience fatigue and may fall asleep at inappropriate times during the day.
An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses,        1011
and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline
of the face in patients with nasal type extranodal NK/T-cell lymphoma.
A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign                1012
neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant
neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.

A serious, life-threatening disorder characterized by necrotic changes affecting portions of the small     1013
and large intestine. It is usually seen in neonates, particularly premature infants. Signs and
symptoms include abdominal distention and tenderness, intestinal bleeding and ileus. It may lead to
cardiovascular collapse and shock.
Infection of the deep skin and subcutaneous tissues and necrosis of the fascia. It is caused by            1014
bacteria including group A streptococcus, Staphylococcus aureus and Clostridium perfringens. It
may develop following trauma and invasive procedures.
A bacterial infectious process affecting the gums. It is characterized by the development of necrotic,     1015
ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival
margins.
A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and             1016
symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma,
and include enlargement of the sella turcica and pressure on the adjacent structures, and skin
hyperpigmentation.
Hepatitis developing during the neonatal period.                                                           338

A condition of the newborn marked by dyspnea with cyanosis, most frequently occurring in                   1017
premature infants, children of diabetic mothers and infants delivered by cesarean section, and
sometimes with no predisposing cause.
A tumor made up of cells with APUD properties. - 2002                                                      1018

Deposition of calcium in the renal parenchyma, resulting from high levels of calcium in the blood          1019
and/or urine.
Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone.                         1020

A rare disorder characterized by fibrosis of the skin and internal organs. It occurs in patients with      1021
renal failure who had imaging studies performed using gadolinium.
A term referring to any disease affecting the kidneys.                                                     339

A sporadic or inherited disorder characterized by the focal or diffuse proliferation of Langerhans         885
cells in the pancreas. It results in hyperinsulinemia and hypoglycemia.
A rare autosomal recessive form of ichthyosis caused by mutations in the SPINK5 gene. Patients             1022
have spiky and fragile hair.
A congenital defect characterized by failure of the neural tube to close completely; this results in the   1023
presence of openings in the brain or spinal cord. Examples of neural tube defects include
encephalocele and spina bifida.
A group of neurologic disorders associated with acanthocytosis on the peripheral blood smear. The          1024
neurologic disorders include movement disorders, ataxia, cognitive disturbances, personality
changes, and seizures.
A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion          177
cells, and the absence of a prominent Schwannian stroma formation.
A parasitic infection with tapeworms of the genus Taenia affecting the brain. It is manifested with        1026
seizures and headaches.
A malignant neuroendocrine tumor composed of cells containing secretory granules that stain                178
positive for NSE and chromogranin. Tumor cells are often round and form clusters or trabecular
sheets. Representative examples are carcinoid tumor, small cell carcinoma, and Merkel cell
carcinoma.
A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative                  1028
examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma.
An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is         1029
composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized
cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with
neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major
nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath
tumors.
An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are 1030
recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is
associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant
peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is
associated with the presence of schwannomas, meningiomas, and gliomas.

Type 1 (peripheral) neurofibromatosis (von Recklinghausen's disease), is the most common type of 1031
neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with
patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found
anywhere on the body surface. They can vary markedly in size and color. The dark brown areas
are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath
neoplasms, called neurofibromas. They can develop anywhere along the peripheral nerve fibers.
Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and
compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant
inheritance, with a gene locus on the proximal long arm of chromosome 17.

An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is               1032
characterized by the development of peripheral and central nervous system tumors including
acoustic schwannomas, neurofibromas, gliomas, and meningiomas.
Diabetes insipidus caused by decreased secretion of antidiuretic hormone from the pituitary gland.       1033

A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes,        180
oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors
or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors.
Tumors that arise from ependymal cells are called ependymomas.
An autoimmune inflammatory syndrome characterized by optic neuritis and myelitis. Signs and        1034
symptoms include loss of vision, weakness and paralysis of the extremities, and loss of sensation.

A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by            1035
accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys,
and myocardium. Signs and symptoms include motor disturbances and cognitive decline.

Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the   1036
original infection which remained untreated. Signs and symptoms include abnormal gait, blindness,
depression, paralysis, seizures and dementia.
A group of neurologic disorders caused by damage to the nervous system following exposure to      1037
pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy
agents, radiation treatment, heavy metals, pesticides, and food additives.

An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is                   540
characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and
skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this
syndrome may also develop medulloblastomas and ovarian fibromas.

An autosomal recessive inherited lysosomal storage disease characterized by deficiency of                1038
sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs,
and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia,
dystonia, and dementia.
An autosomal recessive inherited lysosomal storage disease caused by mutations in the NPC1 and 1039
NPC2 genes. It is characterized by progressive neurologic deterioration manifested with ataxia,
dementia, seizures, and dystonia. Other signs and symptoms include hepatosplenomegaly,
jaundice, and respiratory failure.
An inability to see clearly in dim light; due to a deficiency of vitamin A or to a retinal disorder. 1040

A disorder, wherein unstable chromosomes have a tendency to break and become rearranged,                1041
characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots,
and immunodeficiency. The syndrome is named after the University of Nijmegen in the
Netherlands. (JABL99)
Diagnostic tests fail to detect presence of disease.                                                    1352
Gangrene of the mucous membranes of the mouth leading to ulcers and destruction of the soft             1042
tissues of the face and bones. It usually occurs in malnourished children in areas of poor sanitation
and immunocompromised patients.
A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.    340

Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to              341
cirrhosis and liver failure.
Distinct from Hodgkin lymphoma both morphologically and biologically, Non-Hodgkin lymphoma              181
(NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually
presents as a localized or generalized lymphadenopathy associated with fever and weight loss.
The clinical course varies according to the morphologic type. NHL is clinically classified as indolent,
aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.

A group of at least three distinct histological types of lung cancer, including squamous cell           1043
carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a
poor response to conventional chemotherapy. --2002
Autosomal aneuploidy not associated with trisomy. It results in developmental malformations.            1044

A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less               1045
frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature,
webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet
function.
Having a high amount of body fat (body mass index [BMI] of 30 or more).                                 257

A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to           1046
accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include
dark urine, skin pigmentation, and arthritis.
A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is 1047
characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and
burning sensation in the eyes and photophobia. It leads to blindness.

An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The 1048
main manifestations of this disorder result from involvement of the eyes, nervous system and
kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability,
hypotonia, aminoaciduria and renal tubular dysfunction.
An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and 1049
TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very
fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have
vision disturbances and photophobia.
An autosomal dominant inherited disorder caused by mutations in the PABPN1 gene. It is                 1050
characterized by late-onset eyelid ptosis and dysphagia. Patients have a positive family history
involving at least two generations.
A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the   1051
cerebral hemispheres. It is composed predominantly of cells which morphologically resemble
oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections,
a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)

A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and         1052
inferior olives.
A combination of opsoclonus (involuntary conjugate eye movements of large amplitude) and                  1053
myoclonic jerks. This can be a paraneoplastic syndrome (a result of brain metastasis) or post-
infectious (viral encephalitis).
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired         1054
causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and
multiple sclerosis. It leads to vision disturbances.
A disorder characterized by inflammation of the optic nerve. Causes include autoimmune disorders,         1055
infections, toxins, drugs, and multiple sclerosis. It may manifest with acute loss of vision and pain.

A benign or malignant tumor involving the oral cavity and/or the lips.                                    182
A hamartomatous skin lesion containing sebaceous glands. It is usually located in the scalp.              1056

An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine                        1057
carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum.
Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and
coma.
An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine                        1058
transcarbamylase, resulting in the accumulation of ammonia in the serum. Symptoms include
vomiting, lethargy, and coma.
An X-linked inherited syndrome caused by mutations in the OFD1 gene mapped to chromosome                  1059
Xp22.2. It is characterized by malformations of the face, oral cavity, and fingers.

Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.                        1060

A condition characterized by development of symptoms while standing. It is an autonomic nervous 1061
system disorder and the symptoms are relieved once the person sits back down. Symptoms include
heart palpitations, sweating, anxiety, lightheadedness, hyperpnea, anxiety, and blurred vision.

A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament.         1062
Signs and symptoms result from the compression of nerve roots and include motor and sensory
disturbances in the lower and upper extremities, and pain in the neck and arms.

A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by         408
degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the
synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.

A term referring to disorders characterized by abnormalities in the development of bones and              1063
cartilage.
A group of usually autosomal dominant inherited disorders characterized by defective synthesis of         1064
collagen type I resulting in defective collagen formation. It is characterized by brittle and easily
fractured bones.
A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the     1065
metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are
bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets.
(Diagnostic Surgical Pathology, 3rd ed.) --2003
A rare autosomal dominant inherited disorder characterized by the presence of small areas of              1066
increased density throughout the bones.
A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number         409
and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in
increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal
osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles,
premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an
identifiable cause of bone mass loss).
A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting                   183
adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It
often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain
with or without a palpable mass is the most frequent clinical symptom. It may spread to other
anatomic sites, particularly the lungs.
A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the          500
presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and
metrorrhagia. It may be associated with trisomy 8.
A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT616, and KRT17 genes. It             1068
is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails.

A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant         1069
pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and
extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. -- 2004

A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic     1070
large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is
almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical
features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.

A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical                  1071
(cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic
patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never
been reported.
A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is            1072
characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid
epiglottis, hypothalamic hamartoma, and laryngotracheal cleft.
A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the          1073
presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects
adult males.
A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders             1074
characterized by the thickening of the palms and soles due to hyperkeratosis.
An unpleasant sensation of irregular and/or forceful beating of the heart.                               258

A carcinoma arising from the exocrine pancreas. The overwhelming majority of pancreatic                  184
carcinomas are adenocarcinomas.
A malignant endocrine neoplasm arising from the islets of Langerhans.                                    1076

A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients 1075
exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.

Inflammation of the pancreas.                                                                            410

A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is             1077
characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include
progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and
behavioral changes.
A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and 1078
choroid. Causes include systemic infections, sarcoidosis, and cancers.
A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of             1079
malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.

Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the      1080
optic nerve by a tumor.
A rare autosomal recessive inherited disorder caused by mutations in the cathepsin C gene. It is       1081
manifested with periodontitis resulting in the premature loss of teeth and palmoplantar
keratoderma.
A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in         1082
immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.

A benign or malignant neoplasm arising from paraganglia located along the sympathetic or             1083
parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic
and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called
pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen)
growth pattern. There are no reliable morphologic criteria to distinguish between benign and
malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional
or distant metastases.
A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from        1084
ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.

A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of 1085
an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than
the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.

Complete paralysis of the lower half of the body including both legs, often caused by damage to the 1086
spinal cord.
An inflammatory skin disorder of unknown etiology characterized by papules and plaques or scaly 1087
patches resembling psoriasis.
A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with 185
the symptoms of primary hyperparathyroidism, resulting from the excessive production of
parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma
may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular
invasion, vascular invasion, and/or perineural invasion.

A progressive degenerative disorder of the central nervous system characterized by loss of         1088
dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the
substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most
pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall
back, and a mask-like facial expression.
A rare acquired hematologic disorder characterized by hemolytic anemia, dark-colored urine due to 1089
the release of hemoglobin in the blood, and thrombosis. The episodes of hemolysis tend to occur at
night. It is caused by a somatic mutation in the glycosylphosphatidylinositol biosynthesis gene.

An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals 1090
who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms
include mildly decreased vision and floaters. It may be associated with autoimmune disorders.

A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As 259
a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it
may lead to congestive heart failure.
Having a high amount of body fat during childhood.                                                      345
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is 1092
characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped
neutrophils with bilobed nuclei in the peripheral blood smear.
An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The                 1093
signs and symptoms are the result of defective myelination of the central nervous system and
include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse
leukoencephalopathy.
A rare autoimmune bullous dermatitis that develops during pregnancy, most often during the               1094
second and third trimesters.
An autoimmune blistering skin disorder. Morphologically it is characterized by acantholysis and          1095
intraepidermal blister formation.
Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle- 1096
shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes
erect.
An inflammatory process affecting the pericardium.                                                       260

Cyst of the nerve roots filled with cerebrospinal fluid, usually located in the sacral area of the spine. 1097

A disorder caused by atherosclerosis of the arteries that supply the arms and legs. Patients             261
experience cramping and pain usually in the calves and thighs while walking. The symptoms
subside with rest.
A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.                186
Inflammation or degeneration of the sensory nerves.                                                      411

A disorder characterized by chronic inflammation and fibrosis of the adipose tissues in the       1098
peritoneal cavity.
Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired 262
absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes.           1099
Signs and symptoms include developmental delays, mental retardation, facial abnormalities,
hepatomegaly, and hypotonia.
A cardiopulmonary syndrome characterized by hypoxemia due to increased pulmonary vascular                1100
resistance and subsequent right-to-left shunting of the blood through the foramen ovale and ductus
arteriosus.
A very rare disorder of unknown etiology affecting children. It is characterized by avascular necrosis   1101
of the femoral head.
Epilepsy characterized by very brief episodes of sudden cessation of activity, usually associated        1102
with eye blinking. There is no loss of the muscle tone.
An inherited condition characterized by generalized hamartomatous multiple polyposis of the              1103
intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome
consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa,
and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as
Jeghers-Peutz syndrome and Peutz's syndrome. --2004
A disorder characterized by the body's inability to break down and utilize the essential amino acid      1104
phenylalanine.
A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar       1106
degeneration with accumulation of tau proteins which form Pick bodies.
A rare, autosomal dominant disorder caused usually by mutations in the KIT gene. It is                   1107
characterized by abnormalities in the development of melanocytes. It presents with multiple
symmetrical hypopigmented or depigmented patches of skin and a midline patch of white hair.

A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue,        1108
and cleft palate.
A benign adnexal neoplasm arising from hair-bearing skin surfaces, usually the head and neck and 1109
upper extremities. It usually presents as a solitary, slow-growing nodular mass. Morphologically, it
displays differentiation towards the matrix and inner sheath of the normal hair follicle and the hair
cortex. Complete surgical excision is usually curative. Occasionally, it may recur.

Neoplasms that are located in the pineal gland. These neoplasms arise either from pineal                 1110
parenchymal cells (pineocytes), as do pineocytomas and the more aggressive pineoblastomas, or
from other cell types, as do pineal astrocytic tumors (notably pilocytic astrocytomas) and germ cell
tumors. Clinical symptoms include neuro-ophthalmologic dysfunction, changes in mental status,
dysfunction of the brain stem, and hypothalamic-based endocrine abnormalities. --2004

An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic         1111
cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions
consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may
cause destruction of bones and cartilage and produce disfiguring changes.

A condition referring to irritation or compression of the proximal sciatic nerve, secondary to             1112
contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-
related sciatica.
A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas               188
arising from the anterior lobe of the pituitary gland.
A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with          1113
multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis
acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).

A rare cutaneous disorder of unknown etiology characterized by the presence of reddish-orange            1114
scaly plaques, palmoplantar keratoderma, keratotic follicular papules, and confluent erythematous
areas with areas of normal skin between the lesions.
A Gram-negative bacterial infection caused by Yersinia pestis. It is usually transmitted to humans       1115
from bites of infected rodent fleas. It is manifested as a bubonic, septicemic, or pneumonic plague.
In bubonic plague, the lymph nodes adjacent to the site of the skin bite are infected and enlarged.
In septicemic plague, the infection spreads directly through the bloodstream. In pneumonic plague,
the infection spreads to the lungs either following bubonic plague, or by inhalation of infective
droplets. If untreated, it may lead to death.
An aggressive plasma cell neoplasm with usually short survival. It is characterized by the presence      189
of neoplastic plasma cells in the peripheral blood. The peripheral blood plasma cells comprise more
than 20% of the peripheral blood white cells. It may be the initial presentation of a plasma cell
neoplasm or manifest as a terminal complication of plasma cell myeloma. Lymphadenopathy and
organomegaly are frequent clinical signs, whereas bone pain and osteolytic lesions are less
frequently present.
A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and                 190
skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and
anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma,
and plasma cell leukemia. (WHO, 2001)
A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically       192
identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth
pattern. (WHO, 2001)
A syndrome characterized by dysphagia, upper esophageal webs, iron deficiency anemia, and                1119
glossitis.
An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral   1120
interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and
talc pneumoconiosis.
A syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal                     1121
gammopathy, and skin changes. It is often associated with osteosclerotic myeloma.
A rare developmental disorder characterized by underdevelopment or absence of the pectoralis             1122
muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and
ipsilateral breast and nipple hypoplasia.
A usually autosomal dominant and less frequently autosomal recessive genetic disorder                    346
characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure.
The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16.
Symptoms in patients with the autosomal dominant trait usually appear at middle age and include
abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and
liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in
life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with
abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in
patients on renal dialysis.
A chronic myeloproliferative neoplasm characterized by an increased red blood cell production.           263
Excessive proliferation of the myeloid lineage is observed as well. The major symptoms are related
to hypertension or to vascular abnormalities caused by the increased red cell mass. The cause is
unknown. With currently available treatment, the median survival exceeds 10 years. (WHO, 2001)

A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups               1125
including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies
do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue
and depression.
An idiopathic inflammatory disorder affecting the muscles. It presents with symmetrical proximal        1126
muscle weakness and elevated skeletal muscle enzymes.
A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and        1127
fractures of the bones, endocrine abnormalities including early puberty, and skin
hyperpigmentation.
A clonal proliferation of abnormal keratinocytes characterized by the development of localized or       1128
multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.

A syndrome characterized by orthostatic intolerance resulting in tachycardia, often accompanied by 1129
a decrease in the blood pressure. It occurs when individuals change from the supine position to an
upright position. Other signs and symptoms include lightheadedness, fainting, fatigue and muscle
weakness.
A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by     1130
reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.

Unusually early sexual maturity.                                                                        1131

A pregnancy-related disorder characterized by an increase in the blood pressure after the twentieth 1132
week of gestation, and by the presence of proteinuria. It may appear up to six weeks post-partum. It
may lead to eclampsia with development of tonic-clonic seizures.
A syndrome characterized by premature contractions of the ventricles due to the presence of an       1133
accessory conductive pathway between the atria and the ventricles.
The most common complication of pregnancy. It may appear as chronic hypertension or                  1134
preeclampsia. It may cause brain hemorrhage, pulmonary edema, abruptio placentae, gestational
diabetes mellitus, renal failure, premature delivery and fetal growth abnormalities.

Persistent and usually painful erection that lasts for at least four hours, in the absence of physical or 1135
psychological stimulation. It may be caused by hematologic disorders including sickle cell disease
and leukemia, spinal cord injuries, and medications.
An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile           347
ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have
antimitochondrial and antinuclear antibodies in the peripheral blood.
An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous                1136
effusion without detectable tumor masses. It is universally associated with human herpes virus 8
(HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of
immunodeficiency; most cases have been reported in HIV positive patients. The most common
sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely
unfavorable.
Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is    1137
caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple
endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and
symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain,
osteoporosis, cystic bone lesions, and kidney stones.
A rare disorder of unknown etiology characterized by hypertrophy of the bones of the distal              1138
extremities, periostosis of the tubular bones, digital clubbing, and skin changes including coarse
facial features, acne, and hyperhydrosis.
A rare neurologic progressive disorder characterized by impairment of the language and speech            1139
abilities.
A rare neurologic progressive disorder characterized by impairment of the production of speech.          1140

A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the         348
lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms
include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.

A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by                1142
premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled
skin, small face, development of atherosclerosis, and heart disease. There is no cure for this
condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a
result of complications from atherosclerosis.
A progressive motor neuron disorder affecting the muscles which are innervated by cranial nerves         1143
of the lower brain stem. Signs and symptoms include difficulties in chewing and swallowing,
dysarthria, and weakness of the facial muscles and tongue.
A genetic syndrome affecting infants and children. It is characterized by chronic intrahepatic           349
cholestasis usually progressing to cirrhosis within the first ten years of life.
A progressive demyelination within the central nervous system associated with reactivation of a          1144
latent JC virus infection.
A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive        1145
clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.

A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic       1146
seizures associated with progressive degeneration of the nervous system.
A rare neurodegenerative disorder characterized by gait and balance difficulties and loss of             1147
coordination of eye movements.
A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD          1148
gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers,
susceptibility to infections, and skeletal abnormalities.
Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the       350
retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular
fragility, there is increased risk of vision loss or blindness.
A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB                1149
genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and
symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and
lethargy.
Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a         1150
congenital disorder or the result of brain injury.
A non-neoplastic or neoplastic disorder affecting the prostate gland. Representative examples            351
include prostatitis, benign prostatic hyperplasia, and cancer.
A benign or malignant tumor involving the prostate gland.                                                 194
An infectious or non-infectious inflammatory process affecting the prostate gland.                        413

A very rare congenital disorder characterized by the development of multiple cutaneous and                1151
subcutaneous lesions including lipomas, nevi, and vascular malformations, associated with partial
gigantism or digital overgrowth.
A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or       1152
complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis,
and undescended testes.
An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the        1153
renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis,
urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration
rate.
A well differentiated mucinous adenocarcinoma of the peritoneum. The vast majority of cases               1154
represent tumor spread from a primary well differentiated mucinous adenocarcinoma of the
appendix. Cases of pseudomyxoma peritonei associated with mucinous adenocarcinomas of the
gallbladder, stomach, colon, rectum, pancreas, lung, breast, and fallopian tubes have also been
reported. In the past, the ovary has been considered as a common primary site associated with
pseudomyxoma peritonei. However, there is recent evidence based on immunohistochemistry and
molecular genetic analysis suggesting that most cases of pseudomyxoma peritonei probably
represent metastasis from an appendiceal and not ovarian primary. --2005

An idiopathic disorder characterized by chronic increase in the intracranial pressure. It occurs          1155
predominantly in obese females of childbearing age. It is associated with papilledema.

A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6              1156
gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina,
and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin,
retinal hemorrhage and obstruction of the blood vessels.
A common genetically determined, chronic, inflammatory skin disease characterized by rounded              414
erythematous, dry, scaling patches. Psoriatic lesions have a predilection for nails, scalp, genitalia,
extensor surfaces, and the lumbosacral region; the pathology involves an accelerated
epidermopoiesis. Psoriasis is associated with increased risk for melanoma, squamous cell
carcinoma, and basal cell carcinoma.
A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material    1157
which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to
hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea,
cough and low grade fever.
A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal                  1158
elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination
of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at
any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary
blastoma is divided into two subtypes: epithelial predominant and biphasic.

The closure of the pulmonary artery or one of its branches by an embolus, sometimes associated         264
with infarction of the lung.
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke           385
and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall
damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by 415
connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes
include chronic inflammatory processes, exposure to environmental irritants, radiation therapy,
autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).
Increased pressure within the pulmonary circulation due to lung or heart disorder.                       265

Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing        1161
granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue,
and weight loss.
A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary           1162
hypertension.
A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It           1163
results in the accumulation of lactic acid and other toxic substances in the blood. Signs and
symptoms appear early in life and include failure to thrive, mental and growth retardation, motor
disturbances, seizures, and lactic acidosis.
A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of      1164
infected air particles or contact with fluids and feces of infected animals. Signs and symptoms
include the abrupt onset of fever, headache, myalgias, and weakness.
A life-threatening viral infection caused by the neurotropic Rabies virus. It is transmitted to humans   1165
usually from a bite by an infected dog. The initial signs and symptoms include malaise, fever, and
headache, followed by the central nervous system manifestations which include abrupt behavioral
changes. Paralysis, lethargy, and coma follow the behavioral changes.

An idiopathic vascular disorder characterized by ischemic attacks in the fingers, toes, ears, or nose, 266
associated with pain and pallor. The attacks occur during exposure to cold temperatures or stress.

Epilepsy triggered by an external stimulus or an internal mental process. Photosensitive epilepsy is 1166
the most common form of reflex epilepsy.
A rare neurologic syndrome characterized by burning pain, tenderness, swelling, and changes in         1167
the skin color and temperature of a body part or extremity. It is usually caused by injury or surgery.

A rare autosomal recessive disorder characterized by abnormalities in the breakdown of phytanic     1168
acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage,
cerebellar degeneration, and neuropathy.
A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has            1169
increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and
the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain
and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an
ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound,
intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard
intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation
treatment and chemotherapy.
A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-      352
neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative
examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma)
and malignant processes (e.g., renal cell carcinoma and renal lymphoma).

Acute or chronic condition, characterized by the inability of the kidneys to adequately filter the blood 416
substances, resulting in uremia and electrolyte imbalances. Acute renal failure is usually associated
with oliguria or anuria, hyperkalemia, and pulmonary edema. Chronic renal failure is irreversible and
requires hemodialysis.
A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal             195
neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative
examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma,
Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.
Failure of the renal tubules of the kidney to excrete urine of normal acidity resulting in metabolic       1171
acidosis. It may lead to hypercalcinuria, nephrolithiasis, and renal failure. Causes include
autoimmune disorders (e.g., Sjogren syndrome, systemic lupus erythematosus, and rheumatoid
arthritis), medications (e.g., non steroidal anti-inflammatory drugs, diuretics, and blood pressure
medications), Fanconi syndrome, or it may be familiar.

High blood pressure secondary to renal artery stenosis.                                                    1172

A group of conditions characterized by failure of normal respiration caused by lack of lung                267
surfactant.
A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to   268
move the legs to obtain relief from a strange and uncomfortable sensation in the legs.

A benign or malignant neoplasm affecting the retina. Representative examples of benign                 1174
neoplasms include retinocytoma and hemangioma. Representative examples of malignant
neoplasms include retinoblastoma, lymphoma and melanoma.
A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule               1175
pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or
in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may
lead to blindness.
A malignant tumor that originates in the nuclear layer of the retina. As the most common primary       1176
tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of
all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital,
inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur
sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic
abnormalities. Patients with the inherited form also appear to be at increased risk for secondary
nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.

Any disease or disorder of the retina.                                                                     353

An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in 1177
loss of vision.
A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and            1178
eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include
oxygen toxicity and hypoxia.
A rare, serious disorder characterized by extensive fibrosis in the retroperitoneum. In most cases its 1179
etiology is unknown. In some cases it is related to autoimmunity or metastatic cancer. It leads to the
entrapment and obstruction of vital retroperitoneal structures including the ureters.

A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It                1180
almost exclusively affects girls. It is characterized by language and learning difficulties, poor
communication skills, and repetitive hand motions. Other signs and symptoms include
microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.

An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and    1181
hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the
treatment of viral infections. However, it can also occur in the absence of aspirin use.

A complication during pregnancy; it occurs when the mother is Rh-negative and the infant is Rh-            269
positive. The mother's body develops antibodies against the fetal red blood cells leading to their
destruction. This complication generally does not affect first-born Rh-positive babies. Rh-positive
newborn babies from subsequent pregnancies develop complications of Rh incompatibility which
include hemolysis, jaundice, enlarged liver and spleen, petechiae, hypotonia, neurologic damage,
and heart problems.
A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with            196
abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric
nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.
An inflammatory disorder that follows infection with group A streptococcus. It affects the heart,        1182
joints, and subcutaneous tissues. It is manifested with pericarditis, heart murmur, congestive heart
failure, polyarthritis, subcutaneous nodules, and erythema marginatum. It is characterized by the
formation of granulomatous lesions called Aschoff bodies usually in the heart tissue.

A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial      418
membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in
mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but
autoimmune mechanisms have been implicated.
An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7,                   1183
DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities,
congenital cataracts, and severe mental retardation.
A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is               1184
caused by mutations in the ROR2 gene. There is no causative mutation identified for the autosomal
dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped
genitalia, and wedge-shaped vertebrae.
An autosomal dominant form of long QT syndrome caused by mutations in the KCNE1, KCNE2,                  1185
KCNH2, KCNQ1, SCN5A, and ANK2 genes. It is manifested with arrhythmias.
An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is          1187
characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal
abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.

A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last 1188
one or two days, followed by the development of a characteristic red rash which lasts from one to
five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the
body.
A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the                  1189
CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features
(prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes.
Patients are at an increased risk of developing benign and malignant neoplasms, including nervous
system neoplasms and malignant lymphoproliferative disorders.

An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB         1190
gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation
of gangiosides in the central nervous system and other body tissues. Signs and symptoms include
progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and
hepatosplenomegaly.
An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid   270
granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.

A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat,            197
fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults.
The prognosis depends largely on the degree of differentiation (grade) of the tumor.
Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.

An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is 1193
characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad
mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism.

A parasitic infection caused by flukes of the genus Schistosoma. Signs and symptoms include              1194
fever, abdominal pain, eosinophilia and hepatosplenomegaly. If left untreated it may eventually
cause liver damage leading to cirrhosis, bladder cancer and kidney failure.
A major psychotic disorder characterized by abnormalities in the perception or expression of reality.   419
It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include
delusions, hallucinations, disorganized thinking, and retreat from reality.
A rare congenital cardiopulmonary defect characterized by abnormal right-sided pulmonary venous         1195
drainage and right lung malformations.
A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of     1196
the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies.
Morphologically, there is deposition of mucin in the dermis.
A localized or systemic chronic and progressive autoimmune disorder characterized by thickening         1197
of the skin and the connective tissues. Localized scleroderma affects only the skin. Systemic
scleroderma also affects internal organs, including the heart, lungs, gastrointestinal tract, and
kidneys.
A rare chronic and progressive skin disorder characterized by mucin deposition in the skin, resulting   1198
in the thickening and hardening of the skin, predominantly in the face, fingers, and extremities.

A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone         1199
marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia
and purpura, and splenomegaly.
A common benign skin neoplasm usually affecting older individuals. The lesions usually are              1200
multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly
elevated skin lesions.
A rare syndrome characterized by deficiency of specific antibodies to polysaccharide antigens while     1201
the specific antibodies to protein antigens are normal.
A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and            1202
extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of
uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which
contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous
septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.

A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision,        1203
absence of the septum pellucidum and hypopituitarism.
A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-   1204
to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may
progress to pneumonia and cause death.
X-linked or autosomal recessive disorder characterized by defects of both humoral and cell              1205
mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to
infections, and early death.--2004
A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli     1206
cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is
present in the neoplasm or it may be mixed with other cell types in various combinations. The
prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these
tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor,
Sertoli cell tumor, and tumors of the thecoma-fibroma group.

A generalized peripheral (mature) T-cell neoplasm characterized by the presence of erythroderma, 1207
lymphadenopathy, and neoplastic, cerebriform T-lymphocytes in the blood. Sezary syndrome is an
aggressive disease. (WHO, 2001)
A rare congenital lethal syndrome characterized by the presence of extra fingers and toes and short 1208
ribs, the latter resulting in inability of the lungs to expand. The newborn dies shortly after birth.

A rare, progressive neurodegenerative disorder affecting the autonomic functions. It is manifested      1209
with masked facial appearance or reduced ability to show facial expression, staring, chewing
difficulties, impotence, sleep abnormalities, myalgias, muscle rigidity, movement abnormalities,
tremors, voice and speech changes, depression, and dementia.
An acute or chronic inflammatory process affecting a salivary gland. Signs and symptoms include 1211
pain and tenderness in the affected area.
A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. 1210
It primarily affects the nervous system. Signs and symptoms include developmental delay,
intellectual disability, hypotonia, failure to thrive, seizures, and ataxia.
A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.   271

A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to 1213
thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.

A symptom describing the inability to comprehend more than one element of a visual picture at a         420
given moment, or to integrate the whole visual picture.
A morphologic finding indicating the presence of histiocytic infiltrates within distended lymph node    1214
sinuses.
A rare non-neoplastic disorder of unknown etiology characterized by distention of the lymph node        1186
sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested
lymphocytes. It is usually manifested with cervical lymphadenopathy, fever, leukocytosis, and
hypergammaglobulinemia. . It can affect extranodal sites, including the skin, bones, and the
respiratory tract. It usually regresses spontaneously.
An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is               1215
characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of
these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other
autoimmune disorders, including rheumatoid arthritis and lupus erythematosus.

A rare autosomal recessive inherited metabolic syndrome caused by mutations in the ALDH3A2                1216
gene. It is characterized by deficiency of fatty aldehyde dehydrogenase. It is manifested with
congenital ichthyosis, mental retardation, and leg paralysis.
The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous 129
units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric,
erythematous, and sclerosing or morphea-like.. More than 95% of these carcinomas occur in
patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas.
Approximately 85% are found on the head and neck and the remaining 15% on the trunk and
extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if
untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant
metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.

A disorder of the skin characterized by loss or reduction of the skin color. It is caused by loss of    1217
melanocytes or abnormalities in melanin production.
Cessation of breathing for short periods during sleep. It is classified as obstructive, central, or     272
mixed obstructive-central. It can occur at any age but it is more frequent in people over forty. Risk
factors include male sex and obesity.
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-           1218
glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and
mental retardation.
A carcinoma arising from the small intestine. The vast majority are adenocarcinomas. The                198
remaining cases are adenosquamous, squamous, or undifferentiated carcinomas.
A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized         1219
by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the
cholesterol synthesis. It is manifested with multiple congenital malformations, including facial
abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.

A plasma cell myeloma lacking clinical manifestations and organ impairment.                             199
A rare movement disorder of unknown etiology, characterized by painful, involuntary turns of the        1220
head to the right, left, upwards, or downwards.
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering,   1221
lisps, dysarthria and voice disorders.
A hereditary or acquired blood disorder characterized by the presence of smaller than normal,             1222
sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.
An inherited disorder characterized by degeneration of the spinal cord and the cerebellum.                1223
Symptoms may appear at any age and include progressive loss of coordination of gait, hands,
speech, and eye movements.
A group of congenital neurodegenerative disorders affecting motor neurons, resulting in muscle            1224
weakness and atrophy in childhood. Signs and symptoms include hypotonia, difficulty breathing,
poor feeding, and flaccid quadriplegia.
An inherited disorder characterized by degeneration of the spinal cord and the cerebellum.                1225
Symptoms may appear at any age and include progressive loss of coordination of gait, hands,
speech, and eye movements.
A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the           200
proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded
by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well
differentiated carcinomas are usually associated with keratin production and the presence of
intercellular bridges between adjacent cells. Representative examples are lung squamous cell
carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.

A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. 1226
The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be
localized or generalized, far away from the initial site of infection.
An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in 1227
the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins
in late childhood resulting in progressive loss of vision.
A life-threatening situation in which the brain is in a continuous state of seizure.                 1228

A systemic, serious, and life-threatening disorder characterized by lesions in the skin and mucous 1229
membranes that may lead to necrosis. The lesions may appear anywhere in the body but they
occur more commonly in the palms, soles, dorsum of the hands, and extensor surfaces. The
lesions are vesicular or necrotic in the center, surrounded by an erythematous zone and occupy
less than 10% of the body surfaces. The appearance of the mucocutaneous lesions is preceded by
an upper respiratory tract infection. It is an immune complex hypersensitivity reaction usually
caused by drugs (e.g., sulfa, phenytoin, penicillin), viruses (e.g., herpes simplex, influenza,
hepatitis), and malignancies (e.g., carcinoma and lymphoma).

A rare neurologic disorder characterized by muscle rigidity. It usually affects the axial muscles and     1230
eventually extends to the proximal limb muscles. It is associated with muscle spasms which may
lead to muscle damage and fractures.
A benign or malignant neoplasm composed of mesenchymal stromal cells. Representative                      201
examples include gastrointestinal stromal tumor, endometrial stromal sarcoma, and prostate
stromal sarcoma.
A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both         1231
sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas,
glaucoma, progressive hemiparesis and cognitive deficits.
A rare, slowly progressive post-infectious neurological disorder affecting the central nervous            1232
system. It is characterized by seizures, ataxia, myoclonus, personality changes, spasticity, and
coma. The symptoms appear several years following measles infection at an early age.
A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two       1233
groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features,
immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype,
involves only subcutaneous tissues, and usually has an indolent clinical course. The second group
has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the
subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification,
the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta,
CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of
cutaneous gamma/delta T-cell lymphomas.

A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of 1234
glial tumor cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change.
Some lesions have the histological features of both subependymoma and ependymoma. It is often
detected incidentally and has a very favorable prognosis. (Adapted from WHO.)

An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be                 1235
associated with congenital heart defects.
Unexpected death in infancy which remains unexplained following autopsy, review of the medical                1236
history, and investigation of the death circumstances and death scene.
A rare disorder characterized by episodes of short-lasting pain in one eye or one side of the head.           1237
The pain attacks are associated with watery eyes, swelling of the eyelids, sweaty forehead, and
nasal congestion.
A very rare syndrome characterized by compression of the third portion of the duodenum against                1238
the aorta. The compression is caused by the superior mesenteric artery. It results in complete or
partial duodenal obstruction. Signs and symptoms include nausea, vomiting, abdominal pain and
distention, failure to gain weight, and weight loss.
Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm,                       1239
thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and
symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and
headache.
A rare, congenital or acquired aortic stenosis characterized by localized or diffuse narrowing of the         1240
ascending aorta.
A rare syndrome characterized by fever, skin papules and plaques, and leukocytosis.                           1241
Morphologically, the skin lesions show neutrophilic infiltrates and dermal edema. It may occur in the
absence of underlying conditions. It may also be associated with the presence of cancer or may be
a side effect of medications.
A rare syndrome characterized by the presence of a small lung as a result of unilateral post-                 1242
infectious bronchiolitis obliterans.
A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually                1243
transmitted disorder, although it can also be transmitted from the mother to the fetus in utero.
Typically, it is initially manifested with a single sore which heals without treatment. If the infection is
left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage
follows, which is characterized by damage of the internal organs, including the nervous system.

A rare disorder characterized by the formation of a cyst in the spinal cord. It results in weakness,          1244
pain, and stiffness in the shoulders, arms, legs, or back. It may be associated with Chiari
malformation. Other causes include spinal cord injury, inflammation, or tumor.

A variant of mastocytosis characterized by multifocal, dense infiltrates of mast cells (15 or more            1245
mast cells in aggregates) detected in the bone marrow and/or other extracutaneous sites. (WHO,
2001) -- 2003
A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results 1246
in hardening and thickening of body tissues. The two types of systemic scleroderma, limited
cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A
relationship exists between the extent of skin area affected and degree of internal organ/system
involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome,
digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.

A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs 1247
and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary
incontinence, dementia, and degeneration of the joints.
A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating       1248
undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients
may become aware of the infection by noticing segments of the tapeworm in their feces. If
symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.

A large vessel vasculitis affecting the aorta and its branches. It usually affects young females. It         1249
causes vascular obstruction, resulting in asymmetric pulses.
A rare disorder characterized by transient left ventricular wall systolic dysfunction, resulting in apical   1250
ballooning appearance, chest pain, and ST segment elevation.
A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction       1251
of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the
tissues. Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and
hypocholesterolemia.
A syndrome resulting from the entrapment and compression of the tibial nerve. Signs and                      1252
symptoms include burning sensation, tingling, and pain in the foot sole.
A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It           1253
is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides
in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration
of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle
atrophy, and paralysis.
A T-cell peripheral neoplasm characterized by a persistent (>6 months) increase in the number of             1254
peripheral blood large granular lymphocytes, without a clearly identified cause. (WHO, 2001)

An autoimmune, systemic, giant cell granulomatous arteritis predominantly involving the arteries             1255
that supply blood to the central nervous system, head and eyes. Superficial arteries of the scalp
that are involved tend to be enlarged and tender. Signs and symptoms include headaches,
myalgias, visual disturbances, and skin necrosis.
Benign or malignant neoplasm involving the testis.                                                           1257

A serious infectious disorder that follows wound contamination by the Gram-positive bacterium                1258
Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle
spasm in the jaw and other anatomic sites.
A congenital heart disorder characterized by the presence of the following four abnormalities:               274
ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.

A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain        1260
trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement
and sensory abnormalities, visual abnormalities, ataxia, and coma.
An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains 275
that form hemoglobin. Anemia results from this abnormal hemoglobin formation.

An autosomal recessive disorder that affects the production of beta polypeptide chains which are             1262
necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is                1263
characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the
death of the neonate.
A syndrome resulting from the compression of the blood vessels or nerves in the space between              1264
the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or
sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in
the fingers, and weakening grip.
A condition in which there is an abnormally small number of platelets in the circulating blood.            276

An acute or subacute syndrome characterized by the presence of microangiopathic hemolytic                  277
anemia, thrombocytopenic purpura, fever, renal abnormalities and neurologic abnormalities such as
seizures, hemiplegia, and visual disturbances. Drugs and bacteria have been implicated as
etiologic factors. The introduction of plasma exchange has significantly lowered the mortality rate.
If untreated, the mortality rate is high.
A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in      1267
the midline of the neck.
A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid            1268
gland. It is manifested with congenital hypoparathyroidism.
A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the               202
following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is         1269
characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation
of thyroxin and triiodothyronine in the serum.
A viral infection caused by any of the arboviruses of the Togaviridae family. It is transmitted by         1270
arthropods. Signs and symptoms include fever, headache, nausea, vomiting, rash, confusion, and
seizures.
A disorder characterized by unilateral acute orbital pain associated with muscle weakness or               1271
paralysis of the orbital muscles. It is caused by non-specific inflammation of the cavernous sinus or
superior orbital fissure.
A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is          1272
characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds
(vocal tics). The symptoms are usually manifested before the age of eighteen.
A systemic, serious, and life-threatening disorder characterized by erythematous and necrotic              1274
lesions in the skin and mucous membranes that are associated with bullous detachment of the
epidermis. The epidermal and mucous membranes detachment leads to sepsis and may be fatal.
The lesions appear throughout the body and occupy more than 30% of the body surfaces. It is a
hypersensitivity reaction usually caused by drugs (e.g., sulfonamides, nonsteroidal anti-
inflammatory drugs, anticonvulsants, and antiretroviral drugs).

A parasitic infection caused by Toxocara. Humans are infected by the larvae of Toxocara canis and          1275
Toxocara cati from dogs and cats respectively. Most cases remain asymptomatic. The parasites
may affect the eye, causing diminished vision, or other major organs, causing hepatomegaly,
eosinophilia, wheezing, and coughing.
A rare congenital or acquired disorder characterized by excessive collapsibility of the trachea and        1276
major bronchi resulting in breathing problems. It is caused by damage to the tracheobronchial
cartilage.
A rare syndrome of unknown etiology, characterized by marked dilatation of the lumen of the                1277
trachea and the main bronchi. It results in bronchiectasis and recurrent lung infections.
A congenital or acquired abnormal communication between the trachea and the esophagus.                     1278

A condition characterized by sudden, temporary, usually short-lived memory loss, not associated            1279
with a neurologic disorder. Affected individuals lose memory function for recent events and have a
decreased ability to retain new information. It is usually a solitary event.
A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics 1280
include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in
the middle ear resulting in hearing loss, and downward sloping palpebral fissures.

A sexually transmitted infection caused by the Gram-negative spirochete Treponema pallidum. It is 1281
manifested as syphilis.
A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans 1282
by ingesting raw or undercooked meat from infected animals. Signs and symptoms include
abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias,
arthralgias, and eye swelling.
A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm 1283
of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped
nose, and large ears), multiple exostoses, redundant skin, and mental retardation.

A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical            1284
retardation, and decreased fertility.
A congenital heart defect characterized by the complete lack of formation of the tricuspid valve.            1285
Cyanosis is the predominant clinical symptom.
A painful hand deformity affecting the fingers. It is due to damage of the finger flexor tendons,            1286
causing the finger to remain in a locked position.
A very rare congenital syndrome characterized by the presence of three haploid sets of                       1287
chromosomes. The surviving infants have multiple severe birth defects.
Lack of ability to open the mouth fully due to decreased range of motion of the muscles of                   1288
mastication. It may be a symptom of tetanus.
A chromosomal abnormality consisting of the presence of a third copy of chromosome 12 in                     1289
somatic cells.
A chromosomal abnormality consisting of the presence of a third copy of chromosome 18 in                     1290
somatic cells.
A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic              1291
cells.
A chromosomal abnormality consisting of the presence of a third copy of chromosome 9 in somatic              1292
cells.
A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells.                        1293
Representative examples include hydatidiform mole and choriocarcinoma.
A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in         1294
an individual. It is usually manifested with ambiguous external genitalia.
A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis              1295
(TB) may affect almost any tissue or organ of the body with the lungs being the most common site
of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and
recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized.
Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation
necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic
fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary
bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high
degree of mortality. This infection is frequently observed in immunocompromised individuals with
AIDS or a history of illicit IV drug use. --2004

Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin              1296
and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not
occur until 2nd or 3rd decade.
A serious Gram-negative bacterial infection caused by Francisella tularensis. It is transmitted to           1297
humans through bites from infected insects, inhaling airborne bacteria, handling infected animals,
or consuming contaminated food or water. Signs and symptoms include skin ulcers, mouth sores,
lymphadenopathy, sore throat, fever and pneumonia.
A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of           1298
a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of
neck, low-set ears, hypogonadism, and sterility.
Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid         327
progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any
age, but is most common in childhood or adolescence.
A type of diabetes mellitus that is characterized by insulin resistance or desensitization and           342
increased blood glucose levels. This is a chronic disease that can develop gradually over the life of
a patient and can be linked to both environmental factors and heredity.
An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It        354
may present with an acute or slow onset and follows an intermittent or continuous course. Signs
and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.

A condition characterized by the inheritance of a chromosome pair from one parent and no                 1300
chromosomal copies from the other parent. It results in developmental abnormalities or rare
recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and
Angelman syndrome.
A cyst that develops from the remnants of the urachus.                                                   1301

Disorders of any part of the urologic system.                                                            355

A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and 356
the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination,
lower abdominal discomfort, and cloudy urine.
The most frequent form of cutaneous mastocytosis. In children, the lesions tend to be papular, and 1302
are characterized by aggregates of elongated or spindle-shaped mast cells which fill the papillary
dermis and extend into the reticular dermis. In adults, the lesions tend to have fewer mast cells
compared to those in children. The lesions are located most commonly on the trunk, but they can
be seen on the extremities, head and neck. (WHO, 2001)

A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1,               1303
GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss
or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.

A malignant neoplasm arising from the uterine corpus. This category includes endometrial                 203
carcinoma and carcinosarcoma.
A systemic inflammatory process affecting the inner ear, eyes, skin, and meninges. It is manifested      1304
with hearing disorders, panuveitis, alopecia, poliosis, vitiligo, neck stiffness, headaches, and focal
neurologic signs.
A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous         204
cell carcinomas.
A benign or malignant neoplasm affecting the vagina. Representative examples of benign                   1305
neoplasms include squamous papilloma, angiomyofibroblastoma, and melanocytic nevus.
Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.

Any heart disorder characterized by a defect in valve structure or function.                             278

A variant form of angina pectoris caused by coronary artery vasospasm, usually occurring             1306
spontaneously and frequently associated with ST segment elevation.
A vascular abnormality characterized by the presence of enlarged and tortuous veins, particularly in 279
the legs.
An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks 1307
including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion.
Patients may experience skin sensitivity to sunlight.
Failure to achieve vascular access due to damage of the graft that was created for this purpose.        357

A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood         1308
supply to the brain. It is manifested with decline of memory and cognitive functions.
A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples   358
include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and
angiosarcoma.
An inflammatory process involving the wall of the vessels (large, medium, or small-sized vessels).      280
The inflammatory process may cause necrosis or formation of granulomas in the vascular wall. It
may be the result of an autoimmune disorder, infection, or malignancy. Representative examples
include polyarteritis nodosa, temporal arteritis, Wegener's granulomatosis, Kawasaki disease,
Takayasu arteritis, and Henoch-Schonlein purpura.
A congenital disorder characterized by the presence of a defect (opening) in the septum that            281
separates the two ventricles of the heart. It causes oxygenated blood to flow from the left to the
right ventricle and to the pulmonary circulation. If untreated, it may result in pulmonary
hypertension.
Abnormal flow of urine from the urinary bladder back into the ureters.                                  359

An often clinically aggressive endocrine neoplasm located in the pancreas or small intestine. It is     1309
composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and
metabolic disturbances.
A parasitic infection caused by worms found in domestic animals. In humans nematode larvae              1310
enter the portal system from the small intestine and disseminate in visceral organs causing
inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly,
and lung infections.
Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with      1311
reduced night vision, night blindness, and xerophthalmia.
Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of     1312
medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy,
irritability, seizures, and anemia.
An inherited familial cancer syndrome which is characterized by development of capillary                1313
hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma;
pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with
germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26.
Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS
hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma.
--2004
Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency   282
of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and
symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy
menstrual bleeding, and gastrointestinal bleeding.
The most severe form of von Willebrand disease, inherited in an autosomal recessive pattern. It is      1315
characterized by marked deficiency or absence of von Willebrand factor in the plasma and
platelets, and low plasma levels of factor VIII. It may cause severe bleeding.
A carcinoma arising from the vulva. It usually affects elderly women but has been observed in           205
premenopausal women as well. The most frequently seen histologic type is squamous cell
carcinoma. The most common site of involvement is the labia majora. In many cases, the
development of vulvar cancer is preceded by condyloma or squamous dysplasia.
A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and                1316
SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner
corners of the eyes), and changes in the color of the skin, hair, and eyes.
Lymphoplasmacytic lymphoma associated with bone marrow involvement and IgM monoclonal                   1317
gammopathy.
A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's  1318
axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs
and symptoms include muscle weakness, altered sensation, and limb numbness.

A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of 1319
one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It
may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include
abdominal discomfort and splenomegaly.
A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial          1320
infection, most often Neisseria meningitidis infection. It is manifested with decreased blood
pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.

A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation 1321
of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis.

A rare, autosomal recessive or dominant inherited connective tissue disorder. The autosomal             1322
recessive variant is caused by mutations in the ADAMTS10 gene. It is characterized by
abnormalities in the lens of the eye, short stature, brachydactyly, and joint stiffness.

A syndrome caused by thiamine deficiency. It usually occurs in alcoholics and is characterized by       1323
confusion, ataxia, and ophthalmoplegia.
A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the              1324
PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons
of the central nervous system. Signs and symptoms appear early in life and include movement
difficulties, muscle hypotonia and spasticity, and dementia.
A mosquito-born viral infection caused by the Western equine encephalitis virus. The signs and          1325
symptoms range from flu-like illness to permanent central nervous system damage, coma, and
death.
A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the          1326
small intestine resulting in malabsorption. Other sites or systems affected by the infection are the
joints, central nervous system, and the cardiovascular system.
A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by     1327
severe and uncontrollable cough, resulting in a whooping sound during breathing following the
cough.
A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the          1328
deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial
appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular
abnormalities and infantile hypercalcemia.
An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema            206
components. The vast majority of cases arise from the kidney. A small number of cases with
morphologic features resembling Wilms tumor of the kidney have been reported arising from the
ovary and the cervix.
A very rare congenital condition involving the complex of Wilms' tumor, aniridia, genitourinary         1330
abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental
Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region
11p13. Two or more of the four conditions must be present for an individual to be diagnosed with
WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.

A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and               1331
recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and
IgA and IgE levels are elevated. Lymphoreticular malignancies are common.
A congenital electrical function abnormality in the heart. It is characterized by the presence of an    1332
accessory conductive pathway between the atria and the ventricles which causes the activation of
the ventricles earlier than anticipated. Characteristic electrocardiographic findings are a short PR
interval and a wide QRS complex with a delta wave.
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion    1333
syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a
distinctive facial appearance with prominent forehead and wide set eyes, growth failure with
malformations of the spine, hands, and feet, congenital heart defects, and genitourinary
malformations.
A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized        1334
by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the       1335
LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting,
abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the
adrenal glands.
A medical condition that develops at the site of an existing wound. Examples include swelling,        422
draining, bleeding, formation of hematoma, infection, and necrosis.
An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the      1336
development of numerous pigmented spots resembling freckles, larger atrophic lesions associated
with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner,
xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient
repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease
develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe
ophthalmic and neurologic abnormalities.
Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency,        1337
Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.

A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the 1338
androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy,
and gynecomastia.
An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth 1339
retardation, rickets, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of
phosphorus.
The second most common form of ichthyosis. It is an X-linked inherited disorder with mild skin     1340
manifestations. The skin changes appear at birth and include keratinization and scaling.

Rare congenital disorder inherited as an X-linked defect characterized by impairment of both          1341
humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.
A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the complete          1342
absence of one of the sex chromosomes. Signs and symptoms include short stature and
hypogonadism.
Rare syndromes caused by chromosomal defects and characterized by the presence of multiple X          1343
chromosomes and one Y chromosome. Signs and symptoms include short stature, mental
retardation, hypogonadism, undescended testes, gynecomastia, and hypotonia.

A rare syndrome affecting males. It is characterized by the presence of an extra Y chromosome.        1344
Individuals with this disorder are taller than other males of their age. Signs and symptoms include
learning disabilities and difficulties with speech and language development.

An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger       1345
than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South
America, and Oceania, among poor rural populations where conditions of overcrowding and poor
sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum,
causes the disease.
A viral infection caused by a flavivirus called yellow fever virus. It is transmitted to humans from 1346
infected mosquitoes. The signs and symptoms range from a mild febrile illness to liver damage with
jaundice and hemorrhages.
A rare syndrome characterized by the presence of thickened yellow nails, lymphedema, and                 1347
respiratory abnormalities, including pleural effusion, bronchiectasis, chronic sinusitis, and persistent
cough. Some cases are associated with mutations in the FOXC2 gene.
A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most            1348
common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary,
sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and
pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein
(AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very
responsive to chemotherapy regimens that include cisplatinum.

A rare group of autosomal recessive inherited disorders characterized by the reduction or absence       1349
of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in
the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and
hypotonia.
A syndrome characterized by the presence of a gastrin-secreting tumor, usually in the pancreas or       1350
duodenum, resulting in increased gastric acidity and formation of gastric ulcers. Signs and
symptoms include abdominal pain and diarrhea. It may be sporadic or a manifestation of multiple
endocrine neoplasia type 1.
Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-       1351
facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The
infecting fungi have a predilection for invading vessels of the arterial system, causing embolization
and subsequent necrosis of surrounding tissue.
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        NCI Code    NCI Preferred Name

C2190              Alcohol




C25436             Block


C63374             Citrate
C84516             Dried Specimen
C61742             Edetic Acid




C84515             Fixed Slide
C84514             Fixed Specimen
C29744             Formaldehyde




C84517             Fresh Specimen
C70717             Frozen Specimen

C539               Heparin




C63523             Optimal Cutting
                   Temperature
                   Compound
C63348             RNALater

C84518             Touch Prep Slide

C84519             Zinc-Based Fixative
                               NCI Definition                                       Row            Tab

A volatile liquid prepared by fermentation of certain carbohydrates. Alcohol 423          Preservation Type
acts as a central nervous system (CNS) depressant, a diuretic, and a
disinfectant. Although the exact mechanism of CNS depression is unknown,
alcohol may act by inhibiting the opening of calcium channels, mediated by
the binding of the inhibitory neurotransmitter gamma-amino butyric acid
(GABA) to GABA-A receptors, or through inhibitory actions at N-methyl-D-
aspartate (NMDA)-type glutamate receptors. Alcohol inhibits the production
of antidiuretic hormone, thereby producing diuresis that may lead to
dehydration. This agent kills organisms by denaturing their proteins.

Refers to preserved specimens embedded in support material. These are             424     Preservation Type
typically cut into thin slices for microscopic examination, with or without an
enhancement such as staining.
A salt or ester of citric acid.                                                   425     Preservation Type
Tissue which has been kept dry.                                                   426     Preservation Type
The acid form of edetate, a chelating agent with anti-hypercalcemic and           427     Preservation Type
anticoagulant properties. Edetic acid binds calcium and heavy metal ions,
forming soluble stable complexes which are readily excreted by the kidneys.
This results in a decrease in serum calcium levels. This agent is also used
as an anticoagulant for blood specimens and is applied as a treatment of
lead poisoning.
A slide on which a fixed specimen has been mounted.                               428     Preservation Type
Tissue which is preserved in a fixative solution, usually formalin.               429     Preservation Type
A colorless poisonous gas synthesized by the oxidation of methanol and            430     Preservation Type
used as an antiseptic, disinfectant, histologic fixative, and general-purpose
chemical reagent for laboratory applications. Formaldehyde is readily
soluble in water and is commonly distributed as a 37% solution in water;
formalin, a 10% solution of formaldehyde in water, is used as a disinfectant
and to preserve biological specimens. Environmentally, formaldehyde may
be found in the atmosphere, smoke from fires, automobile exhaust and
cigarette smoke. Small amounts are produced during normal metabolic
processes in most organisms, including humans.

Tissue which has not been exposed to a fixative solution.                         431     Preservation Type
A specimen that has been subjected to and immobilized by severe cold.             432     Preservation Type

A sulfur-rich glycosaminoglycan with anticoagulant property. Heparin binds        433     Preservation Type
to antithrombin III to form a heparin-antithrombin III complex. The complex
binds to and irreversibly inactivates thrombin and other activated clotting
factors, such as factors IX, X, XI, and XII, thereby preventing the
polymerization of fibrinogen to fibrin and the subsequent formation of clots.

A solution of water soluble glycols and resins that provide a specimen            434     Preservation Type
support matrix for cryostat sectioning at temperatures of -10 degrees C and
below.
Trade name for an aqueous, non-toxic tissue storage reagent that rapidly          435     Preservation Type
permeates tissues to stabilize and protect cellular RNA.
A glass slide with attached tissue prepared by direct touching of the tissue to   436     Preservation Type
the slide.
A fixative solution which contains zinc salts.                                    437     Preservation Type
   NCI Code           NCI Preferred Name

C13188        Amniotic Fluid


C13192        Bile

C12431        Bone Marrow


C13257        Breast Milk

C13195        Bronchoalveolar Lavage Fluid

C84507        Buffy Coat

C324          cDNA

C12508        Cell


C12692        Cerebrospinal Fluid

C84512        Cytoplasmic RNA

C449          DNA


C13234        Feces

C77614        Gastric Content

C32705        Hair
C38068        Lavage
C12529        Leukocyte

C36263        Metastatic Malignant Neoplasm

C18124        Microdissection

C33156        Nail
C33256        Pancreatic Exocrine Secretion
C3319         Pericardial Effusion
C13356        Plasma


C80376        Poly A RNA
C84509        Primary Malignant Neoplasm
C17021        Protein
C812     Ribonucleic Acid


C13275   Saliva

C13325   Serum

C25325   Slide

C815     Small Nuclear RNA




C13278   Sputum


C13280   Sweat




C33718   Synovial Fluid
C12801   Tissue


C38046   Unspecified
C13283   Urine

C13323   Vitreous Humor

C41067   Whole Blood

C84513   Whole Bone Marrow
                                      NCI Definition                                           Row

The fluid within the amniotic cavity which surrounds and protects the developing embryo.      1352
It is initially produced by the amnion and then later by the lungs and kidneys. The
amount at term normally varies from 500 to 2000 ml.
Fluid composed of waste products, bile acids, salts, cholesterol, and electrolytes. It is     1354
secreted by the liver parenchyma and stored in the gallbladder.
The tissue occupying the spaces of bone. It consists of blood vessel sinuses and a            1355
network of hematopoietic cells which give rise to the red cells, white cells, and
megakaryocytes.
Milk produced by female mammals and marsupials for the purpose of feeding their               1372
young.
Fluid introduced into, and collected from, the lungs by a bronchoalveolar lavage              1356
procedure.
The upper clear layer of fluid which is separated from a blood clot following density         1357
gradient centrifugation. It contains most of the white blood cells.
Single-stranded DNA that is complementary to messenger RNA or DNA that has been               1359
synthesized from messenger RNA by reverse transcriptase.
The smallest units of living structure capable of independent existence, composed of a        1360
membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid.

The fluid that is contained within the brain ventricles, the subarachnoid space and the    1361
central canal of the spinal cord.
RNA present in the cytoplasm. It is involved in the protein export process from the cells. 1362

A long linear double-stranded polymer formed from nucleotides attached to a                   1363
deoxyribose backbone and found in the nucleus of a cell; associated with the
transmission of genetic information.
The material discharged from the bowel during defecation. It consists of undigested           1364
food, intestinal mucus, epithelial cells, and bacteria.
The contents of the stomach that may include undigested food mixed with juices                1366
secreted by the gastric mucosal glands.
The filamentous outgrowth of the epidermis.                                                   1367
Washing out a hollow organ (especially the stomach) by flushing with a fluid.                 1368
Blood cells that are devoid of hemoglobin, capable of ameboid motion and                      1369
phagocytosis, and act as the principal components of the immune system.
A malignant tumor that has spread from its original (primary) site of growth to another       1370
site close to or distant from the primary site.
A laboratory method in which the tissue from a histology slide is dissected under a           1371
microscope to procure specific cells or cell populations.
The cutaneous plate on the dorsal surface of the distal end of a finger or toe.               1373
Secretion from the pancreas that contains digestive enzymes.                                  1374
Fluid collection within the pericardial sac, usually due to inflammation.                     1375
Plasma is the fluid (noncellular) portion of the circulating blood, as distinguished from     1376
the serum that is the fluid portion of the blood obtained by removal of the fibrin clot and
blood cells after coagulation.
An RNA transcript that contains a tail of poly A residues at its 3&apos; end.                 1377
A malignant tumor at the original site of growth.                                             1378
A group of complex organic macromolecules composed of one or more chains (linear              1379
polymers) of alpha-L-amino acids linked by peptide bonds and ranging in size from a
few thousand to over 1 million Daltons. Proteins are fundamental genetically encoded
components of living cells with specific structures and functions dictated by amino acid
sequence.
Single-stranded long chain of nucleotides containing ribose. It is the end product of DNA 1380
transcription by the enzyme RNA polymerase. It is essential in protein synthesis.

A clear liquid secreted into the mouth by the salivary glands and mucous glands of the        1381
mouth; moistens the mouth and starts the digestion of starches.
The clear portion of the blood that remains after the removal of the blood cells and the      1382
clotting proteins.
A flat rectangular piece of glass on which specimens can be mounted for microscopic           1383
study.
Small nuclear RNA. A class of abundant small nuclear RNAs involved in RNA                     1384
processing (splicing, 3' end maturation). These snRNAs associate with specific proteins
to form the small nuclear ribonucleoprotein particles (snRNP) directly involved in RNA
processing. Seven known snRNAs have been termed U1 through U7 snRNA.

Material containing mucus, cellular debris, microorganisms and sometimes blood or             1385
pus. It is ejected through the mouth from the lungs, bronchi, and trachea.

The liquid secreted by the sweat glands, having a salty taste and a pH that varies from 1386
4.5 to 7.5. Sweat produced by the eccrine sweat glands is clear with a faint
characteristic odor, and contains water, sodium chloride, and traces of albumin, urea,
and other compounds. Its composition varies with many factors, e.g., fluid intake,
external temperature and humidity, and some hormonal activity. Sweat produced by the
larger, deeper, apocrine sweat glands of the axillae contains, in addition, organic
material which on bacterial decomposition produces an offensive odor.

A viscid fluid secreted by the synovial membrane, serving as a lubricant.                     1387
An anatomical structure consisting of similarly specialized cells and intercellular matrix,   1388
aggregated according to genetically determined spatial relationships, performing a
specific function.
Not stated explicitly or in detail.                                                           1390
The fluid that is excreted by the kidneys. It is stored in the bladder and discharged         1391
through the urethra.
The clear colorless transparent jelly that fills the posterior chamber of the eyeball.        1392

Blood that has not been separated into its various components; blood that has not been 1393
modified except for the addition of an anticoagulant.
Bone marrow sample containing a mixture of different types of stem cells, including    1394
hematopoietic stem cells, mesenchymal stem cells, and multipotent progenitor cells.
         Tab

Specimen Type


Specimen Type

Specimen Type


Specimen Type

Specimen Type

Specimen Type

Specimen Type

Specimen Type


Specimen Type

Specimen Type

Specimen Type


Specimen Type

Specimen Type

Specimen Type
Specimen Type
Specimen Type

Specimen Type

Specimen Type

Specimen Type
Specimen Type
Specimen Type
Specimen Type


Specimen Type
Specimen Type
Specimen Type
Specimen Type


Specimen Type

Specimen Type

Specimen Type

Specimen Type




Specimen Type


Specimen Type




Specimen Type
Specimen Type


Specimen Type
Specimen Type

Specimen Type

Specimen Type

Specimen Type
     NCI
NCI Code Preferred Name             NCI Definition                 Row
C41259    American Denotes a person having origins in one of
          Indian or the indigenous peoples of North America,
          Alaska    who lived on the continent prior to the
          Native    European colonization. The term includes
                    individuals belonging to a large number of
                    tribes, states, and ethnic groups, many of
                    them still enduring as communities.
                                                                         1395
C41260    Asian      Denotes a person having origins in any of
                     the original peoples of the Far East,
                     Southeast Asia, or the Indian subcontinent,
                     including Cambodia, China, India, Japan,
                     Korea, Malaysia, Mongolia, Pakistan, the
                     Philippine Islands, Thailand, and Vietnam.
                                                                         1396
C16352    Black or A term used in the United States to
          African  categorize a population group comprised of
          American persons having origins in any of the black
                   racial groups of Africa. Includes population
                   subgroups (e.g., Kenyan, Nigerian,
                   Haitian). The concept refers also to
                   individuals who classify themselves as
                   described.
                                                                         1397
C41219    Native     Denotes a person having origins in any of
          Hawaiian   the original peoples of Hawaii, Guam,
          or other   Samoa, or other Pacific Islands. The term
          Pacific    covers particularly people who identify
          Islander   themselves as part-Hawaiian, Native
                     Hawaiian, Guamanian or Chamorro,
                     Carolinian, Samoan, Chuukese (Trukese),
                     Fijian, Kosraean, Melanesian, Micronesian,
                     Northern Mariana Islander, Palauan, Papua
                     New Guinean, Pohnpeian, Polynesian,
                     Solomon Islander, Tahitian, Tokelauan,
                     Tongan, Yapese, or Pacific Islander, not
                     specified.
                                                                         1398
C43234    Not      Not provided or available.
          Reported



                                                                         1399
C17998    Unknown Not known, not observed, not recorded, or              1406
                  refused.
C41261   White   Denotes person with European, Middle          1407
                 Eastern, or North African ancestral origin
                 who identifies, or is identified, as White.
       Tab       NCI Synonyms
Race         American Indian or
             Alaska Native
             AMERICAN INDIAN
             OR ALASKA NATIVE
             First Nations
             Native Americans
             Native American

Race         Asians
             Asian
             ASIAN




Race         African American
             Afro American
             Black or African
             American
             BLACK OR AFRICAN
             AMERICAN
             Black Populations
             Black

Race         Caucasians
             Caucasian
             Caucasoid
             Occidental
             Whites
             WHITE
             White




Race         Native Hawaiian or
             Other Pacific Islander
             NATIVE HAWAIIAN
             OR OTHER PACIFIC
             ISLANDER

Race         Not Known
             Unknown/Not Stated
             UNKNOWN
             unknown
Race   NOT REPORTED
       Not Reported
       Not Stated
     NCI Code      NCI Preferred Name                             NCI Definition
C17459          Hispanic or Latino       A person of Mexican, Puerto Rican, Cuban, Central or South
                                         American or other Spanish culture or origin, regardless of race. An
                                         arbitrary ethnic classification.




C41222          Not Hispanic or Latino   A person not of Cuban, Mexican, Puerto Rican, South or Central
                                         American, or other Spanish culture or origin, regardless of race.
                                         An arbitrary ethnic classification.



C43234          Not Reported             Not provided or available.



C17998          Unknown                  Not known, not observed, not recorded, or refused.
Row             Tab                 NCI Synonyns
             Ethnicity   Hispanic or Latino
                         HISPANIC OR LATINO
                         Hispanic Populations
                         Hispanics or Latinos
                         Hispanic
                         Latino Population
      1400               Spanish Origin
             Ethnicity   Non-Hispanic or Latino
                         Non-Hispanic
                         Not Hispanic or Latino
                         NOT HISPANIC OR LATINO
      1401               Not Hispanic/Spanish origin
             Ethnicity   NOT REPORTED
                         Not Reported
      1402               Not Stated
             Ethnicity   Not Known
                         Unknown/Not Stated
                         UNKNOWN
                         unknown


      1406
      NCI Code       NCI Preferred Name                            NCI Definition
C46110           Female                   An individual who reports belonging to the cultural gender
                                          role distinction of female




C46109           Male                     An individual who reports belonging to the cultural gender
                                          role distinction of male




                 Unknown                  Not known, not observed, not recorded, or refused.



C17998
C38046           Unspecified              Not stated explicitly or in detail.
Row            Tab        NCI Synonyns
             Gender   Female Gender, Self
                      Reported
                      Female Gender, Self
                      Report
                      Female Gender
      1403            Female
             Gender   Male Gender, Self
                      Reported
                      Male Gender, Self Report
                      Male Gender
                      Male
      1404
             Gender   Not Known
                      Unknown/Not Stated
                      UNKNOWN
      1406            unknown
      1405 Gender     Not Specified
                    Tab                         FLOOR               CEILING
Patient Age Group at Collection                          0                           5
Patient Age Group at Collection                          6   10
Patient Age Group at Collection                         11   15
Patient Age Group at Collection                         16   20
Patient Age Group at Collection                         21   25
Patient Age Group at Collection                         26   30
Patient Age Group at Collection                         31   35
Patient Age Group at Collection                         36   40
Patient Age Group at Collection                         41   45
Patient Age Group at Collection                         46   50
Patient Age Group at Collection                         51   55
Patient Age Group at Collection                         56   60
Patient Age Group at Collection                         61   65
Patient Age Group at Collection                         66   70
Patient Age Group at Collection                         71   75
Patient Age Group at Collection                         76   80
Patient Age Group at Collection                         81   85
Patient Age Group at Collection                         86   200

(ROUND to Highest age)
NEEDS to be modified)
3/9/11 - NEEDS revision/consensus -- should be Range or ????, but in CBM.SQL should be a range or upper limit?
Clean - with a note;
upper limit?
NCI Code                   NCI Name
C12801     Tissue
C13375     Chromosome Fragile Site
C26687     Acanthosis Nigricans
C26689     Addison's Disease
C26689     Addison's Disease
C26689     Addison's Disease
C26692     Factor I Deficiency
C26693     Aneurysm
C26713     Cataract
C26721     Hemophilia B
C26725     Common Variable Immunodeficiency
C26732     Coronary Artery Disease
C26732     Coronary Artery Disease
C26742     Dermatitis Herpetiformis
C26746     Scleroderma
C26747     Type 2 Diabetes Mellitus
C26747     Type 2 Diabetes Mellitus
C26747     Type 2 Diabetes Mellitus
C26747     Type 2 Diabetes Mellitus
C26747     Type 2 Diabetes Mellitus
C26747     Type 2 Diabetes Mellitus
C26747     Type 2 Diabetes Mellitus
C26747     Type 2 Diabetes Mellitus
C26749     VIP Producing Tumor
C26749     VIP Producing Tumor
C26749     VIP Producing Tumor
C26749     VIP Producing Tumor
C26749     VIP Producing Tumor
C26749     VIP Producing Tumor
C26749     VIP Producing Tumor
C26752     Diverticulitis
C26760     Encephalitis
C26765     Enteritis
C26767     Eye Disorder
C26769     Facial Nerve Paralysis
C26769     Facial Nerve Paralysis
C26770     Factor XII Deficiency
C26782     Glaucoma
C26784     Glomerulonephritis
C26785     Goiter
C26790     Acute Infective Polyneuritis
C26790     Acute Infective Polyneuritis
C26798     Hypophosphatasia
C26802     Creutzfeldt-Jacob Disease
C26806     Keratoconus
C26808   Acute Renal Failure
C26815   Progressive Multifocal Leukoencephalopathy
C26817   Lichen Sclerosus et Atrophicus
C26823   Lymphopenia
C26837   Osteogenesis Imperfecta
C26838   Osteomalacia
C26845   Parkinson's Disease
C26861   Pneumoconiosis
C26865   Prostate Disorder
C26866   Prostatitis
C26869   Pulmonary Fibrosis
C26876   Retroperitoneal Fibrosis
C26882   Sialadenitis
C26883   Sjogren Syndrome
C26884   Sleep Apnea
C26900   Turner Syndrome
C26900   Turner Syndrome
C26912   Vasculitis
C26925   Polymyositis
C27000   Abdominal Aortic Aneurysm
C27029   Autoimmune Hepatitis
C27146   Hemophilia A
C27153   Lupus Erythematosus
C27167   Primary Biliary Cirrhosis
C27189   Interstitial Cystitis
C27191   Hashimoto Thyroiditis
C27191   Hashimoto Thyroiditis
C27194   Brachial Plexopathy
C27226   Androgen Insensitivity Syndrome
C27560   Neonatal Respiratory Distress Syndrome
C27561   Respiratory Distress Syndrome
C27562   Hyaline Membrane Syndrome
C27578   Myositis
C27593   Abducens Nerve Disorder
C27644   Deafness
C27961   Neurotoxicity Syndrome
C27996   Myocardial Infarction
C27996   Myocardial Infarction
C28129   Renal Tubular Acidosis
C28182   Rabies
C28286   Insomnia
C28397   Asthma
C2852    Adenocarcinoma
C2859    Adrenal Gland Neoplasm
C2859    Adrenal Gland Neoplasm
C2859    Adrenal Gland Neoplasm
C2859    Adrenal Gland Neoplasm
C2859   Adrenal Gland Neoplasm
C2859   Adrenal Gland Neoplasm
C2859   Adrenal Gland Neoplasm
C2859   Adrenal Gland Neoplasm
C2866   Alzheimer's Disease
C2868   Amyloidosis
C2869   Anemia
C2870   Aplastic Anemia
C2871   Pernicious Anemia
C2877   Anal Neoplasm
C2877   Anal Neoplasm
C2877   Anal Neoplasm
C2877   Anal Neoplasm
C2877   Anal Neoplasm
C2877   Anal Neoplasm
C2877   Anal Neoplasm
C2879   Neoplasm of the Diffuse Neuroendocrine System

C2879   Neoplasm of the Diffuse Neuroendocrine System

C2879   Neoplasm of the Diffuse Neuroendocrine System

C2879   Neoplasm of the Diffuse Neuroendocrine System

C2879   Neoplasm of the Diffuse Neuroendocrine System

C2880   Ovarian Sertoli-Leydig Cell Tumor
C2880   Ovarian Sertoli-Leydig Cell Tumor
C2880   Ovarian Sertoli-Leydig Cell Tumor
C2880   Ovarian Sertoli-Leydig Cell Tumor
C2880   Ovarian Sertoli-Leydig Cell Tumor
C2881   Arrhythmia
C2883   Arthritis
C2884   Rheumatoid Arthritis
C2887   Ataxia Telangiectasia Syndrome
C2887   Ataxia Telangiectasia Syndrome
C2891   Barrett Esophagus
C2891   Barrett Esophagus
C2891   Barrett Esophagus
C2891   Barrett Esophagus
C2891   Barrett Esophagus
C2891   Barrett Esophagus
C2892   Nevoid Basal Cell Carcinoma Syndrome
C2892   Nevoid Basal Cell Carcinoma Syndrome
C2892   Nevoid Basal Cell Carcinoma Syndrome
C2897   Benign Prostatic Hyperplasia
C2897   Benign Prostatic Hyperplasia
C2897   Benign Prostatic Hyperplasia
C2897   Benign Prostatic Hyperplasia
C2897   Benign Prostatic Hyperplasia
C2899   Biliary Tract Disorder
C2900   Bladder Disorder
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2901   Bladder Neoplasm
C2903   Bloom Syndrome
C2911   Bronchitis
C2912   Burkitt Lymphoma
C2912   Burkitt Lymphoma
C2916   Carcinoma
C2916   Carcinoma
C2916   Carcinoma
C2916   Carcinoma
C2917   Carcinoma In Situ
C2917   Carcinoma In Situ
C2917   Carcinoma In Situ
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2920   Malignant Skin Neoplasm
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2921   Skin Basal Cell Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2926   Non-Small Cell Lung Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2929   Squamous Cell Carcinoma
C2931   Cardiovascular Disorder
C2931   Cardiovascular Disorder
C2931   Cardiovascular Disorder
C2941   Chediak-Higashi Syndrome
C2943   Choledochal Cyst
C2946   Chondrosarcoma
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2950   Cytogenetic Abnormality
C2951   Cirrhosis
C2952   Ulcerative Colitis
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2955   Colorectal Carcinoma
C2960   Condyloma Acuminatum
C2960   Condyloma Acuminatum
C2965   Crohn Disease
C2969   Cushing Syndrome
C2970   Adenoid Cystic Carcinoma
C2970   Adenoid Cystic Carcinoma
C2975   Cystic Fibrosis
C2976   Cystinosis
C2982   Depression
C2983   Dermatitis
C2983   Dermatitis
C2983   Dermatitis
C2985   Diabetes Mellitus
C2986   Type 1 Diabetes Mellitus
C2986   Type 1 Diabetes Mellitus
C2986   Type 1 Diabetes Mellitus
C2986   Type 1 Diabetes Mellitus
C2986   Type 1 Diabetes Mellitus
C2986   Type 1 Diabetes Mellitus
C2989   DiGeorge Syndrome
C2989   DiGeorge Syndrome
C2989   DiGeorge Syndrome
C2993   Down Syndrome
C2993   Down Syndrome
C3008   Enchondromatosis
C3011   Yolk Sac Tumor
C3011   Yolk Sac Tumor
C3011   Yolk Sac Tumor
C3011   Yolk Sac Tumor
C3014   Endometriosis
C3016   Eosinophilic Granuloma
C3016   Eosinophilic Granuloma
C3017   Ependymoma
C3017   Ependymoma
C3020   Epilepsy
C3023   Petit Mal Epilepsy
C3032   Fallopian Tube Neoplasm
C3032   Fallopian Tube Neoplasm
C3032   Fallopian Tube Neoplasm
C3032   Fallopian Tube Neoplasm
C3032   Fallopian Tube Neoplasm
C3034   Fanconi Syndrome
C3034   Fanconi Syndrome
C3034   Fanconi Syndrome
C3048   Gallbladder Neoplasm
C3048   Gallbladder Neoplasm
C3048   Gallbladder Neoplasm
C3048   Gallbladder Neoplasm
C3048   Gallbladder Neoplasm
C3056   Angiofollicular Lymphoid Hyperplasia
C3056   Angiofollicular Lymphoid Hyperplasia
C3056   Angiofollicular Lymphoid Hyperplasia
C3056   Angiofollicular Lymphoid Hyperplasia
C3056   Angiofollicular Lymphoid Hyperplasia
C3056   Angiofollicular Lymphoid Hyperplasia
C3058   Glioblastoma
C3058   Glioblastoma
C3058   Glioblastoma
C3058   Glioblastoma
C3058   Glioblastoma
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3059   Neuroglial Tumor
C3060   Glomus Tumor
C3070   Granulosa Cell Tumor
C3071   Graves' Disease
C3076   Cowden Syndrome
C3076   Cowden Syndrome
C3079   Heart Disorder
C3080   Congestive Heart Failure
C3086   Cavernous Hemangioma
C3086   Cavernous Hemangioma
C3087   Hemangiopericytoma
C3092   Hemoglobinopathy
C3093   Hemophilia
C3095   Hepatitis
C3096   Hepatitis A Infection
C3097   Hepatitis B Infection
C3097   Hepatitis B Infection
C3098   Hepatitis C Infection
C3098   Hepatitis C Infection
C3098   Hepatitis C Infection
C3099   Hepatocellular Carcinoma
C3099   Hepatocellular Carcinoma
C3099   Hepatocellular Carcinoma
C3099   Hepatocellular Carcinoma
C3099   Hepatocellular Carcinoma
C3099   Hepatocellular Carcinoma
C3099   Hepatocellular Carcinoma
C3105   Von Hippel-Lindau Syndrome
C3105   Von Hippel-Lindau Syndrome
C3105   Von Hippel-Lindau Syndrome
C3107   Langerhans Cell Histiocytosis
C3107   Langerhans Cell Histiocytosis
C3110   Hydatidiform Mole
C3110   Hydatidiform Mole
C3111   Hydrocephalus
C3113   Hyperplasia
C3117   Hypertension
C3117   Hypertension
C3120   Pulmonary Hypertension
C3128   Hypotension
C3137   Inflammation
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3140   Pancreatic Insulin Producing Tumor
C3146   Keratoacanthoma
C3147   Diffuse Palmoplantar Keratoderma
C3147   Diffuse Palmoplantar Keratoderma
C3147   Diffuse Palmoplantar Keratoderma
C3149   Renal Disorder
C3149   Renal Disorder
C3149   Renal Disorder
C3150   Renal Neoplasm
C3150   Renal Neoplasm
C3150   Renal Neoplasm
C3150   Renal Neoplasm
C3150   Renal Neoplasm
C3150   Renal Neoplasm
C3150   Renal Neoplasm
C3150   Renal Neoplasm
C3153   Krukenberg Tumor
C3155   Lambert Eaton Myasthenic Syndrome
C3157   Leiomyoma
C3157   Leiomyoma
C3157   Leiomyoma
C3157   Leiomyoma
C3157   Leiomyoma
C3158   Leiomyosarcoma
C3161   Leukemia
C3161   Leukemia
C3161   Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3163   Chronic Lymphocytic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3167   Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3168   Childhood Acute Lymphoblastic Leukemia
C3169   Mast Cell Leukemia
C3170   Acute Megakaryoblastic Leukemia
C3170   Acute Megakaryoblastic Leukemia
C3170   Acute Megakaryoblastic Leukemia
C3170   Acute Megakaryoblastic Leukemia
C3171   Acute Myeloid Leukemia
C3171   Acute Myeloid Leukemia
C3171   Acute Myeloid Leukemia
C3171   Acute Myeloid Leukemia
C3171   Acute Myeloid Leukemia
C3171   Acute Myeloid Leukemia
C3171   Acute Myeloid Leukemia
C3171   Acute Myeloid Leukemia
C3174   Chronic Myelogenous Leukemia, BCR-ABL1
        Positive
C3174   Chronic Myelogenous Leukemia, BCR-ABL1
        Positive
C3174   Chronic Myelogenous Leukemia, BCR-ABL1
        Positive
C3174   Chronic Myelogenous Leukemia, BCR-ABL1
        Positive
C3174   Chronic Myelogenous Leukemia, BCR-ABL1
        Positive
C3174   Chronic Myelogenous Leukemia, BCR-ABL1
        Positive
C3174   Chronic Myelogenous Leukemia, BCR-ABL1
        Positive
C3180   Plasma Cell Leukemia
C3180   Plasma Cell Leukemia
C3192   Lipoma
C3194   Liposarcoma
C3196   Hepatic Disorder
C3196   Hepatic Disorder
C3199   Chronic Obstructive Pulmonary Disease
C3199   Chronic Obstructive Pulmonary Disease
C3199   Chronic Obstructive Pulmonary Disease
C3199   Chronic Obstructive Pulmonary Disease
C3207   Lymphedema
C3208   Lymphoma
C3208   Lymphoma
C3208   Lymphoma
C3211   Non-Hodgkin Lymphoma
C3211   Non-Hodgkin Lymphoma
C3222   Medulloblastoma
C3224   Melanoma
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3225   Multiple Endocrine Neoplasia Type 1
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3226   Multiple Endocrine Neoplasia Type 2A
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3227   Multiple Endocrine Neoplasia Type 2B
C3234   Mesothelioma
C3242   Plasma Cell Myeloma
C3242   Plasma Cell Myeloma
C3243   Multiple Sclerosis
C3246   Mycosis Fungoides
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3247   Myelodysplastic Syndrome
C3253   Myositis Ossificans
C3257   Nasopharyngeal Neoplasm
C3257   Nasopharyngeal Neoplasm
C3257   Nasopharyngeal Neoplasm
C3257   Nasopharyngeal Neoplasm
C3257   Nasopharyngeal Neoplasm
C3257   Nasopharyngeal Neoplasm
C3267   Wilms Tumor
C3270   Neuroblastoma
C3272   Neurofibroma
C3273   Neurofibromatosis Type 1
C3273   Neurofibromatosis Type 1
C3274   Neurofibromatosis Type 2
C3274   Neurofibromatosis Type 2
C3274   Neurofibromatosis Type 2
C3276   Acoustic Schwannoma
C3276   Acoustic Schwannoma
C3276   Acoustic Schwannoma
C3276   Acoustic Schwannoma
C3276   Acoustic Schwannoma
C3276   Acoustic Schwannoma
C3276   Acoustic Schwannoma
C3283   Obesity
C3288   Oligodendroglioma
C3288   Oligodendroglioma
C3288   Oligodendroglioma
C3288   Oligodendroglioma
C3292   Bone Paget Disease
C3292   Bone Paget Disease
C3292   Bone Paget Disease
C3292   Bone Paget Disease
C3292   Bone Paget Disease
C3292   Bone Paget Disease
C3292   Bone Paget Disease
C3292   Bone Paget Disease
C3293   Osteoarthritis
C3298   Osteoporosis
C3302   Extramammary Paget Disease
C3302   Extramammary Paget Disease
C3302   Extramammary Paget Disease
C3302   Extramammary Paget Disease
C3302   Extramammary Paget Disease
C3306   Pancreatitis
C3307   Papilledema
C3308   Paraganglioma
C3308   Paraganglioma
C3308   Paraganglioma
C3308   Paraganglioma
C3308   Paraganglioma
C3308   Paraganglioma
C3308   Paraganglioma
C3308   Paraganglioma
C3312   Parapsoriasis
C3316   Penile Fibromatosis
C3316   Penile Fibromatosis
C3316   Penile Fibromatosis
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3321   Peripheral Nervous System Neoplasm
C3324   Peutz-Jeghers Syndrome
C3324   Peutz-Jeghers Syndrome
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3326   Adrenal Gland Pheochromocytoma
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3328   Pineal Region Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3330   Pituitary Gland Neoplasm
C3335   Rothmund-Thomson Syndrome
C3336   Polycythemia Vera
C3336   Polycythemia Vera
C3339   Adenomatous Polyposis Coli
C3339   Adenomatous Polyposis Coli
C3339   Adenomatous Polyposis Coli
C3339   Adenomatous Polyposis Coli
C3339   Adenomatous Polyposis Coli
C3339   Adenomatous Polyposis Coli
C3339   Adenomatous Polyposis Coli
C3343   Prostate Neoplasm
C3343   Prostate Neoplasm
C3343   Prostate Neoplasm
C3343   Prostate Neoplasm
C3343   Prostate Neoplasm
C3345   Pseudomyxoma Peritonei
C3345   Pseudomyxoma Peritonei
C3345   Pseudomyxoma Peritonei
C3345   Pseudomyxoma Peritonei
C3345   Pseudomyxoma Peritonei
C3345   Pseudomyxoma Peritonei
C3346   Psoriasis
C3348   Pulmonary Emphysema
C3353   Acute Respiratory Distress Syndrome
C3353   Acute Respiratory Distress Syndrome
C3353   Acute Respiratory Distress Syndrome
C3362   Schizophrenia
C3366   Sezary Syndrome
C3390    Cerebrovascular Accident
C3390    Cerebrovascular Accident
C3390    Cerebrovascular Accident
C3391    Sturge-Weber Syndrome
C3391    Sturge-Weber Syndrome
C3396    Superior Vena Cava Syndrome
C3404    Testicular Neoplasm
C3404    Testicular Neoplasm
C3404    Testicular Neoplasm
C3404    Testicular Neoplasm
C3404    Testicular Neoplasm
C3408    Thrombocytopenia
C3422    Trophoblastic Tumor
C3422    Trophoblastic Tumor
C3423    Tuberculosis
C3424    Tuberous Sclerosis
C3424    Tuberous Sclerosis
C3424    Tuberous Sclerosis
C3430    Urinary System Disorder
C3430    Urinary System Disorder
C3430    Urinary System Disorder
C3430    Urinary System Disorder
C3433    Urticaria Pigmentosa/Maculopapular Cutaneous
         Mastocytosis
C3433    Urticaria Pigmentosa/Maculopapular Cutaneous
         Mastocytosis
C34345   Achondroplasia
C34348   Acrocephalosyndactyly
C34350   Actinomycosis
C34357   Holmes-Adie Syndrome
C34357   Holmes-Adie Syndrome
C34360   Congenital Adrenal Gland Hyperplasia
C34368   Alpha Thalassemia
C3437    Vaginal Neoplasm
C3437    Vaginal Neoplasm
C3437    Vaginal Neoplasm
C3437    Vaginal Neoplasm
C3437    Vaginal Neoplasm
C3437    Vaginal Neoplasm
C3437    Vaginal Neoplasm
C34373   Amyotrophic Lateral Sclerosis
C34373   Amyotrophic Lateral Sclerosis
C34375   Thalassemia Major
C34375   Thalassemia Major
C34375   Thalassemia Major
C34376   Hemolytic Anemia
C34378   Autoimmune Hemolytic Anemia
C34379   Hereditary Hemolytic Anemia
C34380   Hypochromic Anemia
C34382   Megaloblastic Anemia
C34383   Sickle Cell Disease
C34390   Anthracosis
C34391   Aortic Arch Syndrome
C34398   Arteriosclerosis
C34398   Arteriosclerosis
C34411   Cervicocranial Syndrome
C34411   Cervicocranial Syndrome
C34412   Bartter Syndrome
C34412   Bartter Syndrome
C34415   Beckwith-Wiedemann Syndrome
C34416   Behcet Syndrome
C34421   Biliary Atresia
C34428   Blastomycosis
C3444    Wegener Granulomatosis
C34449   Hypertrophic Cardiomyopathy
C3446    Idiopathic Thrombocytopenic Purpura
C3446    Idiopathic Thrombocytopenic Purpura
C3446    Idiopathic Thrombocytopenic Purpura
C3446    Idiopathic Thrombocytopenic Purpura
C34460   Cerebral Palsy
C34461   Cerebrospinal Fluid Otorrhea
C34465   Cholecystitis
C34469   Choroideremia
C34470   Chromosome Disorder
C3448    Wiskott-Aldrich Syndrome
C34481   Churg-Strauss Syndrome
C34481   Churg-Strauss Syndrome
C34482   Chylous Ascites
C34493   Coccidiosis
C34497   Coma
C34503   Xerophthalmia
C34518   Cri du Chat Syndrome
C34518   Cri du Chat Syndrome
         Xeroderma Pigmentosum
C3452    Xeroderma Pigmentosum
         Xeroderma Pigmentosum
         Xeroderma Pigmentosum
         Xeroderma Pigmentosum
         Xeroderma Pigmentosum
         Xeroderma Pigmentosum
         Xeroderma Pigmentosum
C34520   Cysticercosis
C34522   Multi-Infarct Dementia
C34525   Vascular Dementia
C34528   Dengue Fever
C3453    Zollinger Ellison Syndrome
C34540   Dipetalonemiasis
C3455    Arachnoid Cyst
C34553   Dry Eye Syndrome
C34557   Skin Pigmentation Disorder
C34567   Ectromelia
C34568   Ehlers-Danlos Syndrome
C34577   Japanese B Encephalitis
C34578   Acute Disseminated Encephalomyelitis
C34582   Endocarditis
C34593   Erythromelalgia
C34610   Polyostotic Fibrous Dysplasia
C34637   Necrotizing Ulcerative Gingivitis
C34637   Necrotizing Ulcerative Gingivitis
C34643   IgA Nephropathy
C34649   Goodpasture Syndrome
C34665   Heart Block
C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma
C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma
C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma
C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma
C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma
C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma
C3467    Cutaneous T-Cell Non-Hodgkin Lymphoma
C34675   Hemoglobin C Disease
C34683   Dengue Hemorrhagic Fever
C3469    Palmar Fibromatosis
C3469    Palmar Fibromatosis
C3470    Granuloma Annulare
C34700   Aganglionic Megacolon
C34700   Aganglionic Megacolon
C34708   Hyperlipoproteinemia Type II
C3471    AIDS-Related Lymphoma
C3471    AIDS-Related Lymphoma
C3471    AIDS-Related Lymphoma
C3471    AIDS-Related Lymphoma
C3471    AIDS-Related Lymphoma
C3471    AIDS-Related Lymphoma
C3472    Severe Combined Immunodeficiency
C34741   Dubin-Johnson Syndrome
C34748   Palmoplantar Keratoderma
C34751   Medullary Sponge Kidney
C34752   Klinefelter Syndrome
C34752   Klinefelter Syndrome
C34752   Klinefelter Syndrome
C34758   Visceral Larva Migrans
C3476    Li-Fraumeni Syndrome
C34766   Perthes Disease
C34767   Leishmaniasis
C34768   Cutaneous Leishmaniasis
C34771   Kala-Azar
C34783   Alcoholic Liver Disease
C34786   Long QT Syndrome
C34792   Hemophagocytic Lymphohistiocytosis
C34797   Malaria
C34806   Maple Syrup Urine Disease
C34807   Marfan Syndrome
C34825   Kawasaki Disease
C34830   Cardiomyopathy
C34842   Alport Syndrome
C34842   Alport Syndrome
C34843   Nephropathy
C34844   Minimal Change Glomerulonephritis
C34844   Minimal Change Glomerulonephritis
C34850   Night Blindness
C34854   Noonan Syndrome
C34863   Optic Atrophy
C34880   Bone Necrosis
C34891   Paracoccidioidomycosis
C34903   Pars Planitis
C34907   Benign Mucous Membrane Pemphigoid
C34909   Pemphigus
C34915   Pericarditis
C34940   Pre-Excitation Syndrome
C34951   Progeria
C34951   Progeria
C34963   Henoch-Schonlein Purpura
C34970   Q Fever
C34972   Raynaud's Disease
C34982   Retrolental Fibroplasia
C34983   Reye Syndrome
C34984   Rheumatic Fever
C34995   Sarcoidosis
C34997   Pulmonary Sarcoidosis
C34999   Juvenile Osteochondrosis of Spine
C34999   Juvenile Osteochondrosis of Spine
C35001   Schistosomiasis
C35004   Childhood Schizophrenia
C3501    Peripheral Sensory Neuropathy
C35055   Syphilis
C35056   Latent Syphilis
C35057   Tabes Dorsalis
C35062   Takayasu Arteritis
C35064   Hereditary Hemorrhagic Telangiectasia
C35065   Temporal Arteritis
C35069   Thalassemia
C35075   Hairy Tongue
C35078   Tourette Syndrome
C35080   Tracheoesophageal Fistula
C35114   Varicose Vein
C35117   Vascular Disorder
C3513    Esophageal Carcinoma
C3513    Esophageal Carcinoma
C3513    Esophageal Carcinoma
C3513    Esophageal Carcinoma
C3513    Esophageal Carcinoma
C3513    Esophageal Carcinoma
C35132   Wolff-Parkinson-White Syndrome
C35133   Wolfram Syndrome
C35139   Alagille Syndrome
C3520    Myeloid Sarcoma
C3520    Myeloid Sarcoma
C3539    Malignant Splenic Neoplasm
C3539    Malignant Splenic Neoplasm
C3539    Malignant Splenic Neoplasm
C3539    Malignant Splenic Neoplasm
C3539    Malignant Splenic Neoplasm
C3539    Malignant Splenic Neoplasm
C3539    Malignant Splenic Neoplasm
C35408   Adrenal Gland Hyperplasia
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C3552    Malignant Uterine Neoplasm
C35528   Wolf-Hirschhorn Syndrome
C35547   Yellow Fever Virus Infection
C35548   Monoclonal Gammopathy
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C3568    Malignant Brain Neoplasm
C35716   Idiopathic Pulmonary Fibrosis
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C3573    Malignant Pineal Region Neoplasm
C35764   Wernicke-Korsakoff Syndrome
C35768   Atherosclerosis
C35794   Pagetoid Reticulosis
C35850   Head and Neck Carcinoma
C35850   Head and Neck Carcinoma
C35875   Bronchogenic Carcinoma
C35875   Bronchogenic Carcinoma
C35875   Bronchogenic Carcinoma
C36075   Sinus Histiocytosis with Massive
         Lymphadenopathy
C36077   Hilar Cholangiocarcinoma
C36396   Trisomy 8
C36420   Trisomy 12
C36535   Loss of Chromosome 8
C36626   Trisomy 18
C3677    Benign Neoplasm
C3698    Choroid Plexus Papilloma
C3698    Choroid Plexus Papilloma
C3718    Wilms Tumor-Aniridia-Genitourinary Anomalies-
         Mental Retardation Syndrome
C3720    Anaplastic Large Cell Lymphoma
C3720    Anaplastic Large Cell Lymphoma
C3720    Anaplastic Large Cell Lymphoma
C3720    Anaplastic Large Cell Lymphoma
C3720    Anaplastic Large Cell Lymphoma
C3725    Lymphangioleiomyomatosis
C3726    Lymphangioleiomyomatosis
C37261   Hermansky-Pudlak Syndrome
C3728    Hepatoblastoma
C3728    Hepatoblastoma
C3728    Hepatoblastoma
C37308   Focal Segmental Glomerulosclerosis
C3732    Pulmonary Blastoma
C3732    Pulmonary Blastoma
C3732    Pulmonary Blastoma
C3732    Pulmonary Blastoma
C3739    Benign Fibrous Histiocytoma
C3749    Alveolar Rhabdomyosarcoma
C3750    Alveolar Soft Part Sarcoma
C3768    Acinar Cell Carcinoma
C3768    Acinar Cell Carcinoma
C3768    Acinar Cell Carcinoma
C3768    Acinar Cell Carcinoma
C3768    Acinar Cell Carcinoma
C3770    Pancreatic Endocrine Carcinoma
C3770    Pancreatic Endocrine Carcinoma
C3770    Pancreatic Endocrine Carcinoma
C3770    Pancreatic Endocrine Carcinoma
C3770    Pancreatic Endocrine Carcinoma
C3773    Neuroendocrine Carcinoma
C3777    Papillary Cystadenocarcinoma
C37864   Autoimmune Lymphoproliferative Syndrome
C37864   Autoimmune Lymphoproliferative Syndrome
C3788    Ganglioglioma
C37913   Arachnoiditis
C37935   Cough
C3794    Sex Cord-Stromal Tumor
C3795    Subependymoma
C3795    Subependymoma
C3795    Subependymoma
C37967   Hypercholesterolemia
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C3798    Malignant Peripheral Nerve Sheath Tumor
C37999   Palpitation
C3801    Capillary Hemangioblastoma
C3801    Capillary Hemangioblastoma
C3809    Neuroendocrine Neoplasm
C3844    Gallbladder Carcinoma
C3844    Gallbladder Carcinoma
C3844    Gallbladder Carcinoma
C3844    Gallbladder Carcinoma
C3844   Gallbladder Carcinoma
C3850   Pancreatic Carcinoma
C3850   Pancreatic Carcinoma
C3850   Pancreatic Carcinoma
C3850   Pancreatic Carcinoma
C3850   Pancreatic Carcinoma
C3850   Pancreatic Carcinoma
C3850   Pancreatic Carcinoma
C3850   Pancreatic Carcinoma
C3867   Fallopian Tube Carcinoma
C3867   Fallopian Tube Carcinoma
C3867   Fallopian Tube Carcinoma
C3867   Fallopian Tube Carcinoma
C3867   Fallopian Tube Carcinoma
C3868   Gastrointestinal Stromal Tumor
C3868   Gastrointestinal Stromal Tumor
C3917   Vaginal Carcinoma
C3917   Vaginal Carcinoma
C3917   Vaginal Carcinoma
C3917   Vaginal Carcinoma
C3917   Vaginal Carcinoma
C3917   Vaginal Carcinoma
C3917   Vaginal Carcinoma
C3996   Monoclonal Gammopathy of Undetermined
        Significance
C3996   Monoclonal Gammopathy of Undetermined
        Significance
C3996   Monoclonal Gammopathy of Undetermined
        Significance
C4001   Inflammatory Breast Carcinoma
C4001   Inflammatory Breast Carcinoma
C4001   Inflammatory Breast Carcinoma
C4001   Inflammatory Breast Carcinoma
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4016   Malignant Bone Neoplasm
C4018   Lobular Breast Carcinoma In Situ
C4018   Lobular Breast Carcinoma In Situ
C4018   Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C4018    Lobular Breast Carcinoma In Situ
C40197   High Grade Cervical Squamous Intraepithelial
         Neoplasia
C40197   High Grade Cervical Squamous Intraepithelial
         Neoplasia
C40197   High Grade Cervical Squamous Intraepithelial
         Neoplasia
C40197   High Grade Cervical Squamous Intraepithelial
         Neoplasia
C41353   Yaws
C4247    Malignant Fibrous Histiocytoma
C4247    Malignant Fibrous Histiocytoma
C4247    Malignant Fibrous Histiocytoma
C4247    Malignant Fibrous Histiocytoma
C4247    Malignant Fibrous Histiocytoma
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4264    Clear Cell Sarcoma of the Kidney
C4298    Epithelioid Hemangioma
C4298    Epithelioid Hemangioma
C4313    Ameloblastoma
C43263   Diabetes Insipidus
C4350    Limbic Encephalitis
C4371    Pregnancy Associated Hypertension
C4375    Nesidioblastosis
C4375    Nesidioblastosis
C4376    Renal Failure
C4392    Cervical Symmetrical Lipomatosis
C4436    Cholangiocarcinoma
C4436    Cholangiocarcinoma
C44959   Chlamydia Psittaci Infection
C45525   Valvular Heart Disorder
C45909   Hermaphrodite
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4664    T-Cell Large Granular Lymphocyte Leukemia
C4678    Organoid Nevus
C4678    Organoid Nevus
C4682    X-Linked Severe Combined Immunodeficiency

C4685    Paraneoplastic Cerebellar Degeneration
C4686    Opsoclonus Myoclonus Syndrome
C4692    Nijmegen Breakage Syndrome
C4705    Carney Syndrome
C4705    Carney Syndrome
C4705    Carney Syndrome
C4705    Carney Syndrome
C4705    Carney Syndrome
C4705    Carney Syndrome
C4705    Carney Syndrome
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C4767    Malignant Eye Neoplasm
C47857   Paget Disease of the Breast
C47857   Paget Disease of the Breast
C47857   Paget Disease of the Breast
C4786    Dementia
C4797    Perineural Cyst
C4797    Perineural Cyst
C4797    Perineural Cyst
C4797    Perineural Cyst
C4797    Perineural Cyst
C4800    Retinal Neoplasm
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4815    Thyroid Gland Carcinoma
C4817    Ewing Sarcoma
C4817    Ewing Sarcoma
C4817    Ewing Sarcoma
C4828    Primary Sclerosing Cholangitis
C48280   Primary Hyperparathyroidism
C4866    Vulvar Carcinoma
C4866    Vulvar Carcinoma
C4866    Vulvar Carcinoma
C4866    Vulvar Carcinoma
C4866    Vulvar Carcinoma
C4866    Vulvar Carcinoma
C4866    Vulvar Carcinoma
C4872    Breast Carcinoma
C4872    Breast Carcinoma
C4872    Breast Carcinoma
C4872    Breast Carcinoma
C4872    Breast Carcinoma
C4872    Breast Carcinoma
C4878    Lung Carcinoma
C4878    Lung Carcinoma
C4878    Lung Carcinoma
C4878    Lung Carcinoma
C4878    Lung Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4906    Parathyroid Gland Carcinoma
C4911    Gastric Carcinoma
C4911    Gastric Carcinoma
C4911    Gastric Carcinoma
C4911    Gastric Carcinoma
C4911    Gastric Carcinoma
C4911    Gastric Carcinoma
C4911    Gastric Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4912    Bladder Carcinoma
C4924    Trichothiodystrophy
C49343   Deep Vein Thrombosis
C4991    AIDS-Related Disorder
C5041    Speech Manifestations
C50466   Atrial Fibrillation
C50466   Atrial Fibrillation
C50479   Cardiac Arrest
C50479   Cardiac Arrest
C50482   Cardiogenic Shock
C50575   Alopecia
C50575   Alopecia
C50577   Heart Failure
C50655   Mitral Valve Prolapse
C50655   Mitral Valve Prolapse
C50687   Paraplegia
C50713   Pulmonary Embolism
C50780   Bacterial Toxemia
C50791   Urinary Tract Infection
C51225   Biliary Cirrhosis
C53457   Multiple Osteochondromas
C53649   Cytomegaloviral Infection
C5560    Eccrine Porocarcinoma
C5560    Eccrine Porocarcinoma
C60781   Astrocytoma
C61233   Paroxysmal Nocturnal Hemoglobinuria
C61236   Congenital Pure Red Cell Aplasia
C61249   Glanzmann Thrombasthenia
C61251   Metachromatic Leukodystrophy
C61252   Adrenoleukodystrophy
C61254   Krabbe Disease
C61255   Lesch-Nyhan Syndrome
C61257   Neuronal Ceroid Lipofuscinosis
C61260   Hunter Syndrome
C61261   Hurler Syndrome
C61263   Morquio Syndrome
C61264   Maroteaux-Lamy Syndrome
C61265   Scheie Syndrome
C61267   Mucolipidosis
C61268   Gaucher Disease
C61269   Niemann-Pick Disease
C61271   Wolman Disease
C61272   Glycogen Storage Disease
C61273   Aspartylglycosaminuria
C61274   Fucosidosis
C61283   Antiphospholipid Syndrome
C61574   Uterine Corpus Cancer
C61574   Uterine Corpus Cancer
C61574   Uterine Corpus Cancer
C61574   Uterine Corpus Cancer
C61574   Uterine Corpus Cancer
C61574   Uterine Corpus Cancer
C6207    Childhood Brain Germinoma
C6207    Childhood Brain Germinoma
C6207    Childhood Brain Germinoma
C6207    Childhood Brain Germinoma
C6207    Childhood Brain Germinoma
C62505   Fanconi Anemia
C62505   Fanconi Anemia
C62505   Fanconi Anemia
C62505   Fanconi Anemia
C62505   Fanconi Anemia
C62545   Burning Mouth Syndrome
C62569   Epidermolytic Hyperkeratosis
C62578   Capillary Leak Syndrome
C62578   Capillary Leak Syndrome
C62578   Capillary Leak Syndrome
C62591   Hypopituitarism
C62601   Retinopathy
C6432    Multiple Endocrine Neoplasia
C6432    Multiple Endocrine Neoplasia
C6432    Multiple Endocrine Neoplasia
C6432    Multiple Endocrine Neoplasia
C65184   Islet Cell Adenoma
C66915   Variant Angina
C66915   Variant Angina
C6727    Neurofibromatosis
C67277   Giant Hypertrophic Gastritis
C67277   Giant Hypertrophic Gastritis
C6728    Gardner Syndrome
C67383   Epidermolysis Bullosa
C6781    Stromal Neoplasm
C68677   von Willebrand Disease
C6915    Primary Effusion Lymphoma
C6915    Primary Effusion Lymphoma
C6918    Subcutaneous Panniculitis-Like T-Cell
         Lymphoma
C6918    Subcutaneous Panniculitis-Like T-Cell
         Lymphoma
C6918    Subcutaneous Panniculitis-Like T-Cell
         Lymphoma
C70549   Microscopic Polyarteritis
C70646   CREST Syndrome
C7073    Paget Disease
C7073    Paget Disease
C7073    Paget Disease
C70938   Mononeuritis Multiplex
C71059   Brugada Syndrome
C7149    Smoldering Myeloma
C7149    Smoldering Myeloma
C7149    Smoldering Myeloma
C71719   Histiocytic Necrotizing Lymphadenitis
C72069   Localized Scleroderma
C72070   Systemic Scleroderma
C72070   Systemic Scleroderma
C72070   Systemic Scleroderma
C7368    Pilomatricoma
C7368    Pilomatricoma
C7368    Pilomatricoma
C7368    Pilomatricoma
C7402    Hairy Cell Leukemia
C7402    Hairy Cell Leukemia
C7419    Acanthoma
C7431    Malignant Ovarian Neoplasm
C7431    Malignant Ovarian Neoplasm
C7431    Malignant Ovarian Neoplasm
C7431    Malignant Ovarian Neoplasm
C7431    Malignant Ovarian Neoplasm
C7431    Malignant Ovarian Neoplasm
C7431    Malignant Ovarian Neoplasm
C7431    Malignant Ovarian Neoplasm
C7436    Bronchial Intraepithelial Neoplasia
C74988   Holoprosencephaly
C74996   Joubert Syndrome
C75012   Dandy-Walker Malformation
C75016   Cornelia De Lange Syndrome
C75018   Treacher Collins Syndrome
C75020   Cleidocranial Dysplasia
C75118   Trichorhinophalangeal Syndrome Type II
C75120   Nail-Patella Syndrome
C7541    Retinoblastoma
C75457   Jacobsen Syndrome
C75462   Angelman Syndrome
C75463   Prader-Willi Syndrome
C75464   Polycystic Kidney Disease
C75466   Rubinstein-Taybi Syndrome
C75467   Charcot-Marie-Tooth Disease
C75467   Charcot-Marie-Tooth Disease
C75479   Kallmann Syndrome
C75481   Orofaciodigital Syndrome Type 1
C75482   Duchenne Muscular Dystrophy
C75486   Menkes Disease
C75487   Pelizaeus-Merzbacher Disease
C75488   Rett Syndrome
C75545   Hemolytic Uremic Syndrome
C7563    Hidradenoma
C7563    Hidradenoma
C7602    Halo Nevus
C7636    Progressive Myoclonus Epilepsy
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7703    Childhood Brain Neoplasm
C7705    Childhood Rhabdomyosarcoma
C77212   Zygomycosis
C7724    Small Intestinal Carcinoma
C7724    Small Intestinal Carcinoma
C7724    Small Intestinal Carcinoma
C7724    Small Intestinal Carcinoma
C7724    Small Intestinal Carcinoma
C7724    Small Intestinal Carcinoma
C7724    Small Intestinal Carcinoma
C7724    Small Intestinal Carcinoma
C78350   Hypoparathyroidism
C78651   Trismus
C78719   Wound Complication
C78797   Thrombotic Thrombocytopenic Purpura
C78797   Thrombotic Thrombocytopenic Purpura
C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C7927    Liver and Intrahepatic Biliary Tract Carcinoma

C79484   Stevens-Johnson Syndrome
C79704   Precocious Puberty
C79777   Toxic Epidermal Necrolysis

C80078   Chronic Kidney Disease
C80303   POEMS Syndrome
C80307   Waldenstrom Macroglobulinemia
C80512   Gastroparesis
C81315   Phenylketonuria
C8196    Nasal Cavity and Paranasal Sinus Lethal Midline
         Granuloma
C8196    Nasal Cavity and Paranasal Sinus Lethal Midline
         Granuloma
C8196    Nasal Cavity and Paranasal Sinus Lethal Midline
         Granuloma
C82341   Spinocerebellar Ataxia
C82342   Huntington's Disease
C82342   Huntington's Disease
C82342   Huntington's Disease
C82343   Irritable Bowel Syndrome
C82865   Familial Benign Pemphigus
C82865   Familial Benign Pemphigus
C83010   Central Core Disease
C84269   Mastocytosis
C84282   Trisomy 9
C84389   Bullous Pemphigoid
C84390   Eisenmenger Syndrome
C84391   Macular Degeneration
C84392   Mental Retardation
C84395   Simultanagnosia
C84396   Acute Liver Failure
C84397   Alpha-1 Antitrypsin Deficiency
C84397   Alpha-1 Antitrypsin Deficiency
C84399   Bariatric Surgery
C84402   Benign Recurrent Intrahepatic Cholestasis
C84403   Bile Acid Synthesis Defect
C84411   Cryptogenic Cirrhosis
C84412   Liver Disease Associated with Cystic Fibrosis

C84415   Diabetes Complication
C84417   Diabetic Nephropathy
C84420   Diabetic Eye Disease
C84427   Drug Induced Liver Injury
C84428   End Stage Liver Disease
C84433   Childhood Diabetes Mellitus
C84442   Metabolic Syndrome
C84443   Mitochondrial Hepatopathy
C84444   Nonalcoholic Fatty Liver Disease
C84445   Nonalcoholic Steatohepatitis
C84446   Neonatal Hepatitis
C84448   Childhood Renal Disorder
C84449   Pediatric Obesity
C84453   Progressive Familial Intrahepatic Cholestasis
C84457   Proliferative Diabetic Retinopathy
C84459   Vascular Access Graft Failure
C84467   Vesicoureteral Reflux
C84472   Asbestos-Related Lung Disorder
C84473   Atrial Septal Defect
C84475   Bronchiectasis
C84476   Carotid Artery Disorder
C84477   Congenital Coronary Artery Abnormality
C84478   Coronary Microvascular Disease
C84479   Excessive Blood Clotting
C84480   Heart Murmur
C84481   Hemochromatosis
C84482   Congenital Septal Defect
C84484   Iron-Deficiency Anemia
C84489   Narcolepsy
C84492   Patent Ductus Arteriosus
C84496   Peripheral Arterial Disorder
C84496   Peripheral Arterial Disorder
C84501   Restless Leg Syndrome
C84504   Rh Incompatibility
C84505   Tetralogy of Fallot
C84506   Ventricular Septal Defect
C84521   Deletion 18p Syndrome
C84523   HMG-CoA Lyase Deficiency
C84524   5' 10' Methylenetetrahydrofolate Reductase
         Deficiency
C84525   Abetalipoproteinemia
C84526   Acatalasemia
C84527   Achondrogenesis
C84528   Achromatopsia
C84530   Acquired Hyperostosis Syndrome
C84531   Acrocallosal Syndrome
C84532   Acrodermatitis
C84533   Acromegaly
C84534   Actinomycetales Infection
C84535   Acute Hemorrhagic Leukoencephalitis
C84536   Acute Intermittent Porphyria
C84537   Acyl-CoA Dehydrogenase, Long-Chain
         Deficiency
C84538   Acyl-CoA Dehydrogenase, Medium-Chain
         Deficiency
C84539   Acyl-CoA Dehydrogenase, Short-Chain
         Deficiency
C84540   Adiposis Dolorosa
C84540   Adiposis Dolorosa
C84541   African Trypanosomiasis
C84542   Agnosia
C84543   Albinism
C84544   Ainhum
C84545   Alexander Disease
C84546   Alkaptonuria
C84547   Allergic Bronchopulmonary Aspergillosis
C84548   Alpha-Mannosidosis
C84549   Alstrom Syndrome
C84550   Amaurosis Fugax
C84551   Amebiasis
C84552   Amniotic Band Syndrome
C84553   Amyloid Neuropathy
C84554   Familial Amyloid Neuropathy
C84555   Familial Amyloidosis
C84559   Andersen Syndrome
C84560   Anencephaly
C84561   Non-Trisomic Autosomal Aneuploidy
C84562   Anhidrotic Ectodermal Dysplasia 1
C84563   Aniridia
C84564   Ankylosing Spondylitis
C84565   Anthrax
C84566   Anti-Glomerular Basement Membrane Disease

C84567   Aortic Coarctation
C84568   Argininemia
C84569   Argininosuccinic Aciduria
C84570   Arnold-Chiari Malformation
C84571   Arrhythmogenic Right Ventricular Dysplasia
C84572   Arthrogryposis
C84573   Asbestosis
C84574   Atrophic Muscular Disorder
C84575   Auditory Perceptual Disorder
C84576   Autoimmune Polyendocrinopathy Syndrome
C84577   Autosomal Dominant Optic Atrophy
C84578   Autosomal Dominant Polycystic Kidney Disease

C84579   Autosomal Recessive Polycystic Kidney Disease

C84580   Autosomal Recessive Hypohidrotic Ectodermal
         Dysplasia
C84581   Babesiosis
C84583   Balantidiasis
C84584   Balkan Endemic Nephropathy
C84585   Barth Syndrome
C84586   Bartonella Infection
C84587   Becker's Muscular Dystrophy
C84588   Benign Migratory Glossitis
C84593   Benign Neonatal Epilepsy
C84594   Berardinelli-Seip Congenital Lipodystrophy
C84595   Bernard-Soulier Syndrome
C84596   Beta-Mannosidosis
C84597   Beta-Methylcrotonylglycinuria
C84598   Biotinidase Deficiency
C84599   Botulism
C84600   Brachial Plexus Neuritis
C84601   Brown-Sequard Syndrome
C84602   Brucellosis
C84603   Bundle Branch Block
C84604   Buruli Ulcer
C84605   Byssinosis
C84606   CADASIL Syndrome
C84607   Calciphylaxis
C84609   Campomelic Dysplasia
C84610   Camurati-Engelmann Syndrome
C84611   Canavan Disease
C84612   Carbamoyl-Phosphate Synthetase I Deficiency

C84615   Carbohydrate-Deficient Glycoprotein Syndrome

C84617   Cardiofaciocutaneous Syndrome
C84618   Cataplexy
C84619   Caroli Disease
C84620   Cat-Scratch Disease
C84621   Central Nervous System Cavernous
         Hemangioma
C84622   Central Nervous System Vasculitis
C84623   Central Pontine Myelinolysis
C84624   Cerebellar Degeneration
C84625   Cerebral Amyloid Angiopathy
C84626   Cerebral Cavernous Malformation
C84627   Cerebrospinal Fluid Rhinorrhea
C84628   Cerebrotendinous Xanthomatosis
C84629   Chagas Disease
C84630   Cherubism
C84631   Chilblains
C84632   Chondrodysplasia Punctata
C84633   Chorea
C84636   Chronic Inflammatory Demyelinating
         Polyneuropathy
C84637   Chronic Pancreatitis
C84638   Ciliary Motility Defect
C84639   Citrullinemia
C84640   Classical Lissencephaly
C84641   Clubfoot
C84642   Coccidioidomycosis
C84643   Coffin-Lowry Syndrome
C84644   Cogan-Reese Syndrome
C84645   Congenital Cortical Hyperostosis
C84646   Congenital Dyserythropoietic Anemia
C84647   Congenital Myasthenic Syndrome
C84648   Congenital Structural Myopathy
C84649   Congenital Syphilis
C84650   Connexin 26 Gene Anomaly
C84651   Cor Triatriatum
C84652   Costello Syndrome
C84653   Craniofacial Dysostosis
C84654   Craniomandibular Disorder
C84655   Craniosynostosis
C84656   Crigler-Najjar Syndrome
C84657   Cryopyrin-Associated Periodic Syndrome
C84663   Cutis Laxa
C84664   Cystinuria
C84665   Darier Disease
C84666   De Sanctis-Cacchione Syndrome
C84667   Dentinogenesis Imperfecta
C84668   Denys-Drash Syndrome
C84669   Dextrocardia
C84670   Diffuse Cerebral Sclerosis of Schilder
C84671   Diffuse Idiopathic Skeletal Hyperostosis
C84671   Diffuse Idiopathic Skeletal Hyperostosis
C84672   Dihydropyrimidine Dehydrogenase Deficiency

C84673   Dilated Cardiomyopathy
C84675   Distal Muscular Dystrophy
C84676   Donohue Syndrome
C84677   Dracunculiasis
C84678   Duane Syndrome
C84679   Dystrophia Myotonica 1
C84680   Dystrophia Myotonica 2
C84681   Ebstein Anomaly
C84682   Echinococcosis
C84683   Ectodermal Dysplasia
C84684   Ellis-Van Creveld Syndrome
C84685   Emery-Dreifuss Muscular Dystrophy
C84686   Empty Sella Syndrome
C84687   Encephalocele
C84688   Endemic Typhus Fever
C84689   Epidemic Louse-Borne Typhus
C84690   Epidermolysis Bullosa Acquisita
C84691   Epidermolysis Bullosa Dystrophica
C84692   Epidermolysis Bullosa Simplex
C84693   Epidermolytic Palmoplantar Keratoderma
C84695   Erythema Infectiosum
C84696   Erythrokeratodermia Variabilis
C84697   Erythropoietic Porphyria
C84698   Erythropoietic Protoporphyria
C84699   Esophageal Achalasia
C84701   Fabry Disease
C84702   Facial Asymmetry
C84703   Facial Hemiatrophy
C84704   Facioscapulohumeral Muscular Dystrophy
C84705   Factor XI Deficiency
C84706   Familial Dysautonomia
C84707   Familial Mediterranean Fever
C84708   Familial Partial Lipodystrophy
C84709   Familial Periodic Paralysis
C84710   Farber Lipogranulomatosis
C84711   Fatal Familial Insomnia
C84712   Felty Syndrome
C84713   Fetal Alcohol Syndrome
C84714   Fibromuscular Dysplasia
C84715   Focal Dermal Hypoplasia
C84716   Fox-Fordyce Disease
C84717   Fragile X Syndrome
C84718   Friedreich Ataxia
C84719   Frontotemporal Dementia
C84720   Hereditary Fructose Intolerance
C84721   Fuchs Endothelial Dystrophy
C84722   Fusobacterium Infection
C84723   Galactosemia
C84724   Gastric Antral Vascular Ectasia
C84725   Gastroschisis
C84726   Genu Varum
C84727   Gerstmann-Straussler-Scheinker Disease
C84728   Giant Axonal Neuropathy
C84729   Gilbert Syndrome
C84730   Gitelman Syndrome
C84733   Glycogen Storage Disease Type I
C84734   Glycogen Storage Disease Type II
C84735   Glycogen Storage Disease Type IIb
C84736   Glycogen Storage Disease Type III
C84737   Glycogen Storage Disease Type IV
C84738   Glycogen Storage Disease Type V
C84739   GM1 Gangliosidosis
C84740   Goldenhar Syndrome
C84741   Gray Platelet Syndrome
C84742   Great Vessels Transposition
C84743   Gynatresia
C84744   Gyrate Atrophy
C84745   Hajdu-Cheney Syndrome
C84746   Hallermann Syndrome
C84747   Hantavirus Pulmonary Syndrome
C84748   Hartnup Disease
C84750   HELLP Syndrome
C84751   Helminthiasis
C84753   Hemorrhagic Fever with Renal Syndrome
C84754   Hepatoerythropoietic Porphyria
C84756   Hepatolenticular Degeneration
C84756   Hepatolenticular Degeneration
C84757   Hereditary Angioedema Types I and II
C84758   Hereditary Angioedema
C84759   Hereditary Coproporphyria
C84760   Hereditary Mucosal Leukokeratosis
C84761   Hereditary Hyperbilirubinemia
C84762   Herpes Simplex Encephalitis
C84763   Herpes Zoster Oticus
C84764   HFE-Associated Hereditary Hemochromatosis

C84765   Homocystinuria
C84766   Hydroa Vacciniforme
C84767   Hydrops Fetalis
C84768   Hymenolepiasis
C84769   Hyperargininemia
C84770   Hyperhomocysteinemia
C84771   Hyperlipoproteinemia Type I
C84772   Hyperostosis Frontalis Interna
C84773   Familial Hypertrophic Cardiomyopathy
C84774   Hypoalphalipoproteinemia
C84775   Hypokalemic Periodic Paralysis
C84776   Ichthyosis
C84777   Ichthyosis Bullosa of Siemens
C84778   Ichthyosis Vulgaris
C84779   X-Linked Ichthyosis
C84780   Idiopathic CD4-Positive T-Lymphocytopenia
C84781   Idiopathic Hypersomnolence
C84782   Ileitis
C84783   Immunodeficiency With Hyper-IgM
C84784   Imperforate Anus
C84785   Inborn Urea Cycle Disorder
C84786   Inclusion Body Myositis
C84787   Incontinentia Pigmenti
C84788   West Syndrome
C84789   Infantile Refsum Disease
C84790   Intestinal Atresia
C84791   Intracranial Hypertension
C84792   Iridocorneal Endothelial Syndrome
C84793   Jervell and Lange Nielsen Syndrome
C84794   Jeune Syndrome
C84795   Meesmann Corneal Dystrophy
C84796   Juvenile Myoclonic Epilepsy
C84797   Kartagener Syndrome
C84798   Kearns-Sayre Syndrome
C84799   Kernicterus
C84800   Kleine-Levin Syndrome
C84801   Klippel-Trenaunay-Weber Syndrome
C84802   Kluver-Bucy Syndrome
C84803   Korsakoff Syndrome
C84804   Lafora Disease
C84805   Lamellar Ichthyosis
C84806   Landau-Kleffner Syndrome
C84807   Lateral Medullary Syndrome
C84807   Lateral Medullary Syndrome
C84808   Leber Hereditary Optic Atrophy
C84813   Lecithin Acyltransferase Deficiency
C84814   Leigh Disease
C84816   Lennox-Gastaut Syndrome
C84820   LEOPARD Syndrome
C84824   Leprosy
C84825   Leptospirosis
C84826   Lewy Body Dementia
C84827   Liddle Syndrome
C84828   Limb-Girdle Muscular Dystrophy
C84829   Lipoid Proteinosis of Urbach and Wiethe
C84830   Machado-Joseph Disease
C84832   Macroglossia
C84833   Malakoplakia
C84834   Malformations of Cortical Development
C84835   Malignant Atrophic Papulosis
C84869   Malignant Hyperthermia Syndrome
C84881   Mallory-Weiss Syndrome
C84882   Mansonelliasis
C84883   Marburg Virus Disease
C84885   MELAS Syndrome
C84886   Melkersson-Rosenthal Syndrome
C84887   Melorheostosis
C84888   Meningeal Tuberculosis
C84889   MERRF Syndrome
C84890   Mevalonate Kinase Deficiency
C84891   Microsporidiosis
C84892   Mixed Connective Tissue Disease
C84893   Mobius Syndrome
C84894   Monilethrix
C84895   Moyamoya Disease
C84896   Mucolipidosis Type IV
C84897   Mucopolysaccharidosis Type IIIA
C84898   Mucopolysaccharidosis Type IIIB
C84899   Mucopolysaccharidosis Type IIIC
C84900   Mucopolysaccharidosis Type IIID
C84901   Mucopolysaccharidosis Type IVA
C84902   Mucopolysaccharidosis Type IVB
C84903   Sly Syndrome
C84904   Muenke Syndrome
C84905   Muir-Torre Syndrome
C84906   Mulibrey Nanism
C84907   Multiple Acyl-CoA Dehydrogenase Deficiency

C84908   Multiple Sulfatase Deficiency Disease
C84909   Multiple System Atrophy
C84910   Muscular Dystrophy
C84911   Myokymia
C84912   Myotonia Congenita
C84913   Myotonic Disorder
C84914   Myotonic Dystrophy
C84915   Necrotizing Enterocolitis
C84916   Necrotizing Fasciitis
C84917   Nelson Syndrome
C84918   Nephrocalcinosis
C84919   Nephrogenic Diabetes Insipidus
C84920   Nephrogenic Fibrosing Dermopathy
C84922   Netherton Syndrome
C84923   Neural Tube Defect
C84926   Neuroacanthocytosis
C84927   Infantile Neuroaxonal Dystrophy
C84932   Neurocysticercosis
C84933   Neurogenic Diabetes Insipidus
C84934   Neuromyelitis Optica
C84935   Neurosyphilis
C84936   Noma
C84937   Glycine Encephalopathy
C84938   Ochronosis
C84939   Ocular Cicatricial Pemphigoid
C8494    Hereditary Non-Polyposis Colon Cancer
C8494    Hereditary Non-Polyposis Colon Cancer
C8494    Hereditary Non-Polyposis Colon Cancer
C8494    Hereditary Non-Polyposis Colon Cancer
C8494    Hereditary Non-Polyposis Colon Cancer
C8494    Hereditary Non-Polyposis Colon Cancer
C8494    Hereditary Non-Polyposis Colon Cancer
C84940   Oculocerebrorenal Syndrome
C84941   Oculocutaneous Albinism
C84942   Oculopharyngeal Muscular Dystrophy
C84947   Olivopontocerebellar Atrophy
C84950   Optic Neuritis
C84957   Ornithine Carbamoyltransferase Deficiency
         Disease
C84960   Ornithine Transcarbamylase Deficiency
C84970   Orthostatic Hypotension
C84973   Orthostatic Intolerance
C84975   Ossification of Posterior Longitudinal Ligament

C84978   Osteochondrodysplasia
C8498    Hereditary Melanoma
C8498    Hereditary Melanoma
C8498    Hereditary Melanoma
C84985   Osteopoikilosis
C84986   Pachyonychia Congenita
C84987   Pallister-Hall Syndrome
C84988   Pantothenate Kinase-Associated
         Neurodegeneration
C84989   Panuveitis
C84992   Papillon-Lefevre Syndrome
C84995   Paragonimiasis
C85002   Pelger-Huet Anomaly
C85003   Pemphigoid Gestationis
C85004   Peritoneal Panniculitis
C85005   Peroxisomal Disorder
C85006   Persistent Fetal Circulation Syndrome
C85008   Pick's Disease
C85009   Piebaldism
C85010   Pierre Robin Syndrome
C85011   Pinta
C85012   Piriformis Muscle Syndrome
C85013   Pityriasis Lichenoides
C85014   Pityriasis Rubra Pilaris
C85015   Plague
C85016   Plummer-Vinson Syndrome
C85017   Poland Syndrome
C85018   Polymyalgia Rheumatica
C85019   Porokeratosis
C85020   Postural Orthostatic Tachycardia Syndrome
C85021   Preeclampsia
C85022   Priapism
C85023   Primary Hypertrophic Osteoarthropathy
C85024   Primary Progressive Aphasia
C85025   Primary Progressive Nonfluent Aphasia
C85026   Progressive Bulbar Palsy
C85027   Progressive Muscular Atrophy
C85028   Progressive Supranuclear Palsy
C85029   Prolidase Deficiency
C85030   Propionic Acidemia
C85031   Prosopagnosia
C85032   Proteus Syndrome
C85033   Prune Belly Syndrome
C85034   Pseudohypoaldosteronism
C85035   Pseudotumor Cerebri
C85036   Pseudoxanthoma Elasticum
C85037   Pulmonary Alveolar Proteinosis
C85039   Pulmonary Veno-Occlusive Disease
C85040   Pyruvate Carboxylase Deficiency
C85041   Reflex Epilepsy
C85042   Reflex Sympathetic Dystrophy Syndrome
C85043   Refsum Disease
C85044   Renovascular Hypertension
C85045   Retinitis Pigmentosa
C85046   Retinoschisis
C85047   Rhizomelic Chondrodysplasia Punctata
C85048   Robinow Syndrome
C85049   Romano-Ward Syndrome
C85051   Rubella
C85052   Sandhoff Disease
C85053   Mucopolysaccharidosis Type I
C85056   Scimitar Syndrome
C85057   Scleredema Adultorum
C85061   Scleromyxedema
C85062   Sea-Blue Histiocyte Syndrome
C85063   Septo-Optic Dysplasia
C85064   Severe Acute Respiratory Syndrome
C85065   Short Rib-Polydactyly Syndrome
C85066   Shy-Drager Syndrome
C85067   Sialic Acid Storage Disease
C85068   Silver-Russell Syndrome
C85069   Sinus Histiocytosis
C85070   Sjogren-Larsson Syndrome
C85071   Smith-Lemli-Opitz Syndrome
C85072   Spasmodic Torticollis
C85073   Selective Antibody Deficiency with Normal
         Immunoglobulins
C85074   Spherocytosis
C85075   Spinal Muscular Atrophy
C85076   Spinal Muscular Atrophy of Childhood
C85077   Staphylococcal Scalded Skin Syndrome
C85078   Stargardt Disease
C85079   Status Epilepticus
C85170   Stiff Person Syndrome
C85171   Subacute Sclerosing Panencephalitis
C85172   Subvalvular Aortic Stenosis
C85173   Sudden Infant Death Syndrome
C85174   SUNCT Syndrome
C85175   Superior Mesenteric Artery Syndrome
C85176   Supravalvular Aortic Stenosis
C85177   Sweet Syndrome
C85178   Swyer James Syndrome
C85179   Syringomyelia
C85180   Taeniasis
C85181   Takotsubo Cardiomyopathy
C85182   Tangier Disease
C85183   Tarsal Tunnel Syndrome
C85184   Tay-Sachs Disease
C85185   Tetanus
C85186   Thalamic Disease
C85187   Thanatophoric Dysplasia
C85188   Thoracic Outlet Syndrome
C85189   Thyroglossal Duct Cyst
C85190   Thyroid Dysgenesis
C85191   Thyroid Hormone Resistance Syndrome
C85192   Togaviridae Infection
C85193   Tolosa-Hunt Syndrome
C85194   Toxocariasis
C85195   Tracheobronchomalacia
C85196   Tracheobronchomegaly
C85197   Treponemal Infection
C85198   Transient Global Amnesia
C85199   Trichinosis
C85202   Tricuspid Atresia
C85203   Trigger Finger Disorder
C85204   Triploidy Syndrome
C85207   True Hermaphroditism
C85208   Tularemia
C85210   XO Syndrome
C85213   von Willebrand Disease, Type 3
C85214   Niemann-Pick Disease, Type C
C85215   Uniparental Disomy
C85216   Urachal Cyst
C85217   Usher Syndrome
C85218   Uveomeningoencephalitic Syndrome
C85219   Variegate Porphyria
C85220   Vitamin A Deficiency
C85221   Vitamin B6 Deficiency
C85222   Waardenburg Syndrome
C85223   Wallerian Degeneration
C85224   Wandering Spleen
C85225   Waterhouse-Friderichsen Syndrome
C85226   Weill-Marchesani Syndrome
C85227   Western Equine Encephalomyelitis
C85228   Whipple Disease
C85231   Whooping Cough
C85232   Williams Syndrome
C85233   X-Linked Bulbar-Muscular Atrophy
C85234   X-Linked Dominant Hypophosphatemic Rickets

C85236   XXXY and XXXXY Syndrome
C85237   XYY Syndrome
C85238   Yellow Nail Syndrome
C85239   Zellweger Syndrome
C40413   No evidence of Disease
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8715    Rhabdoid Tumor of the Kidney
C8965    Lymphangioma
C8967   Brain Iron Accumulation Type I Syndrome
C8967   Brain Iron Accumulation Type I Syndrome
C8973   Endometrial Stromal Sarcoma
C8989   Oral Neoplasm
C8989   Oral Neoplasm
C8989   Oral Neoplasm
C8989   Oral Neoplasm
C9006   Seborrheic Keratosis
C9006   Seborrheic Keratosis
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9039   Cervical Carcinoma
C9087   Kaposi Sarcoma
C9087   Kaposi Sarcoma
C9087   Kaposi Sarcoma
C9087   Kaposi Sarcoma
C9087   Kaposi Sarcoma
C9118   Sarcoma
C9118   Sarcoma
C9145   Osteosarcoma
C9231   Merkel Cell Carcinoma
C9231   Merkel Cell Carcinoma
C9231   Merkel Cell Carcinoma
C9231   Merkel Cell Carcinoma
C9231   Merkel Cell Carcinoma
C9231   Merkel Cell Carcinoma
C9233   Juvenile Myelomonocytic Leukemia
C9233   Juvenile Myelomonocytic Leukemia
C9233   Juvenile Myelomonocytic Leukemia
C9233   Juvenile Myelomonocytic Leukemia
C9235   Systemic Mastocytosis
C9309   Seminoma
C9330   Appendix Carcinoma
C9330   Appendix Carcinoma
C9330    Appendix Carcinoma
C9330    Appendix Carcinoma
C9349    Plasmacytoma
C9357    Hodgkin Lymphoma
C9357    Hodgkin Lymphoma
C9357    Hodgkin Lymphoma
C9360    Lymphoblastic Lymphoma
C9360    Lymphoblastic Lymphoma
C9385    Renal Cell Carcinoma
C9385    Renal Cell Carcinoma
C9385    Renal Cell Carcinoma
C9385    Renal Cell Carcinoma
C9385    Renal Cell Carcinoma
C9385    Renal Cell Carcinoma
C9385    Renal Cell Carcinoma
C9438    Chronic Renal Failure
C9460    Cockayne Syndrome

C12472   Adipose Tissue
C12666   Adrenal Gland
C12666   Adrenal Gland
C13188   Amniotic Fluid
C13188   Amniotic Fluid
C13188   Amniotic Fluid
C43362   Anus
C12669   Aorta
C12380   Appendix
C32141   Arm
C12372   Artery
C12447   Basal Ganglia
C12376   Bile Duct
C12678   Biliary Tract
C12678   Biliary Tract
C12414   Bladder
C12414   Bladder
C12434   Blood
C12434   Blood
C12679   Blood Vessel
C12366   Bone
C12431   Bone Marrow
C12439   Brain
C12441   Brain Stem
C12971   Breast
C12683   Bronchus
C12685   Capillary
C12373   Cartilage
C12445   Cerebellum
C12692   Cerebrospinal Fluid
C12311   Cervix Uteri
C12311   Cervix Uteri
C12311   Cervix Uteri
C12382   Colon
C12700   Cranial Nerve
C12702   Diaphragm
C12462   Dorsal Root Ganglion
C12394   Ear
C13004   Endocardium
C12865   Endothelial Cell
C12328   Epididymis
C12389   Esophagus
C12401   Eye
C12401   Eye
C12401   Eye
C12403   Fallopian Tube
C12403   Fallopian Tube
C13108   Fascia
C54187   Floor of Mouth
C32622   Foot
C12377   Gallbladder
C12377   Gallbladder
C12725   Gonad
C32705   Hair
C12727   Heart
C12246   Hypopharynx
C32885   Islet Cell
C13044   Joint
C13044   Joint
C84388   Joint Capsule
C12415   Kidney
C32898   Knee Joint
C12346   Lacrimal Gland
C12379   Large Intestine
C12420   Larynx
C32974   Leg
C12529   Leukocyte
C12529   Leukocyte
C12529   Leukocyte
C13046   Ligament
C12220   Lip
C12392   Liver
C12392   Liver
C12392   Liver
C12392   Liver
C12392   Liver
C12392   Liver
C12468   Lung
C12745   Lymph Node
C12745   Lymph Node
C12535   Lymphocyte
C33049   Male Prepuce
C33049   Male Prepuce
C12748   Mediastinum
C33096   Meniscus
C33103   Mesentery
C12971   Breast Milk
C12971   Breast Milk
C13056   Muscle
C12371   Myocardium
C12371   Myocardium
C12371   Myocardium
C12314   Myometrium
C33156   Nail
C12423   Nasopharynx
C13063   Neck
C12466   Nerve
C12533   Neutrophil
C12533   Neutrophil
C12756   Nose
C33209   Omentum
C12421   Oral Cavity
C12421   Oral Cavity
C12421   Oral Cavity
C12421   Oral Cavity
C12421   Oral Cavity
C12762   Oropharynx
C12404   Ovary
C12404   Ovary
C12393   Pancreas
C12763   Paranasal Sinus
C12763   Paranasal Sinus
C12763   Paranasal Sinus
C12763   Paranasal Sinus
C12763   Paranasal Sinus
C12763   Paranasal Sinus
C12765   Parathyroid Gland
C12765   Parathyroid Gland
C12409   Penis
C13005   Pericardium
C12954   Peripheral Blood Mononuclear Cell
C12768   Peripheral Nerve
C12770   Peritoneum
C33318   Pharyngeal Tonsil
C12425   Pharynx
C12398   Pineal Gland
C12399   Pituitary Gland
C12399   Pituitary Gland
C12399   Pituitary Gland
C12399   Pituitary Gland
C13272   Placenta
C13356   Plasma
C12520   Platelet
C12520   Platelet
C12410   Prostate Gland
C12410   Prostate Gland
C12410   Prostate Gland
C12390   Rectum
C12426   Salivary Gland
C12787   Seminal Vesicle
C12470   Skin
C12386   Small Intestine
C12386   Small Intestine
C12464   Spinal Cord
C12432   Spleen
C12432   Spleen
C12391   Stomach
C12391   Stomach
C33718   Synovial Fluid
C12473   Synovial Membrane
C13045   Tendon
C12412   Testis
C12412   Testis
C12412   Testis
C12433   Thymus Gland
C12433   Thymus Gland
C12433   Thymus Gland
C12400   Thyroid Gland
C12400   Thyroid Gland
C12422   Tongue
C12802   Tonsil
C12506   Tooth
C12428   Trachea
C34320   Umbilical Cord
C13300   Umbilical Cord Blood
C12416   Ureter
C12417   Urethra
C12405   Uterus
C12405   Uterus
C12405   Uterus
C12407   Vagina
C12813   Vas Deferens
C12814   Vein
C12933   Vertebra
C12998   Vertebral Column
C12998   Vertebral Column
C12408   Vulva
C41259   American Indian or Alaska Native
C41259   American Indian or Alaska Native
C41259   American Indian or Alaska Native
C41259   American Indian or Alaska Native
C16352   Black or African American
C16352   Black or African American
C16352   Black or African American
C16352   Black or African American
C16352   Black or African American
C41261   White
C41261   White
C41261   White
C41261   White
C41261   White
C41219   Native Hawaiian or other Pacific Islander
C17459   Hispanic or Latino
C17459   Hispanic or Latino
C17459   Hispanic or Latino
C17459   Hispanic or Latino
C17459   Hispanic or Latino
C17459   Hispanic or Latino
C41222   Not Hispanic or Latino
C41222   Not Hispanic or Latino
C41222   Not Hispanic or Latino
C41222   Not Hispanic or Latino
C43234   Not Reported


C43234   Not Reported


C17998   Unknown


C17998   Unknown


C17998   Unknown


C46109   Male Gender
C46109   Male Gender
C46109   Male Gender
C46110   Female Gender
C46109   Female Gender
C46109   Female Gender
C38046   Unspecified
                                     NCI Synonym




Chronic Adrenal Insufficiency
Hypocortisolism
Primary Adrenal Insufficiency
Afibrinogenemia



Factor IX Deficiency
Acquired Agammaglobulinemia
Coronary Disease
CAD



NIDDM
Non-Insulin Dependent Diabetes Mellitus
Type II Diabetes
Non-Insulin Dependent Diabetes
Type 2 Diabetes Mellitus Non-Insulin Dependent
Type 2 Diabetes
Type II Diabetes Mellitus
Adult Onset Diabetes
VIP-Secreting Tumor
VIPoma
VIP-Secreting Neoplasm
VIP Producing Neoplasm
Vasoactive Intestinal Peptide Producing Neoplasm
Vasoactive Intestinal Peptide Secreting Neoplasm
Vasoactive Intestinal Peptide Producing Tumor




Eye Disease
Facial Palsy
Bell's Palsy
Hageman Factor Deficiency




Guillain Barre Syndrome
Guillain-Barre Syndrome

CJD
Acute Kidney Injury
PML




Parkinson Disease

Prostate Disease

Interstitial Lung Disease

Sialoadenitis
Sjogren's Syndrome


Turner's Syndrome
Gonadal Dysgenesis




Factor VIII Deficiency
Lupus
Chronic Non-Suppurative Destructive Cholangitis


Autoimmune Thyroiditis
Hashimoto's Thyroiditis

Testicular Feminization Syndrome


RDS




Neurotoxicity
MI
Myocardial Infarct




Asthma


Tumor of the Adrenal Gland
Tumor of Adrenal Gland
Adrenal Neoplasms
Neoplasm of Adrenal Gland
Neoplasm of the Adrenal Gland
Adrenal Neoplasm
Adrenal Tumor
Adrenal Gland Tumor
Alzheimer's Dementia




Anal Tumor
Anal Neoplasms, Benighn and Malignant
Anal Tumors
Tumor of Anus
Neoplasm of the Anus
Tumor of the Anus
Neoplasm of Anus

Apudoma

Neoplasm of Diffuse Neuroendocrine System

Tumor of the Diffuse Neuroendocrine System

APUDoma

Tumor of Diffuse Neuroendocrine System
Sertoli-Leydig Neoplasm of Ovary
Ovarian Sertoli-Leydig Cell Neoplasm
Sertoli-Leydig Cell Tumor of Ovary
Sertoli-Leydig Cell Tumor of the Ovary
Sertoli-Leydig Neoplasm of the Ovary
Cardiac Arrhythmia
Arthritis


Ataxia Telangiectasia
Louis-Bar Syndrome
CELLO
BE
Columnar-Lined Esophagus
CLE
Barrett's Esophagus
Columnar Epithelial-Lined Lower Esophagus
Gorlin-Goltz Syndrome
Basal Cell Nevus Syndrome
Gorlin Syndrome
Benign Prostatic Hypertrophy
Benign Hyperplasia of Prostate
Benign Hyperplasia of the Prostate
Benign Prostate Hyperplasia
BPH
Biliary Tract Disease
Urinary Bladder Disorder
Neoplasm of Urinary Bladder
Urinary Bladder Tumors
Neoplasm of Bladder
Bladder Tumor
Bladder Tumors
Tumor of the Bladder
Tumor of the Urinary Bladder
Tumor of Bladder
Urinary Bladder Tumor
Neoplasm of the Urinary Bladder
Tumor of Urinary Bladder
Urinary Bladder Neoplasms
Urinary Bladder Neoplasm
Neoplasm of the Bladder
Congenital Telangiectatic Erythema Syndrome


Small Non-Cleaved Cell Lymphoma, Burkitt's Type
Burkitt's Lymphoma
Malignant Epithelial Tumor
Malignant Epithelioma
Epithelial Carcinoma
Malignant Epithelial Neoplasm
Non-Invasive Carcinoma
CIS
Intraepithelial Carcinoma
Malignant Skin Tumor
Malignant Tumor of Skin
Skin Cancer, Including Melanoma
Skin Cancers
Malignant Neoplasm of the Skin
Malignant Neoplasm of Skin
Malignant Tumor of the Skin
Skin Neoplasms, Malignant
Melanoma and Non-Melanoma Skin Cancer
Basal Cell Epithelioma
BCC
Basal Cell Carcinoma of the Skin
Basal Cell Carcinoma
Basal Cell Skin Carcinoma
Basiloma
Rodent Ulcer
Basal Cell Carcinoma of Skin
Basal Cell Cancer
Non-Small Cell Cancer of Lung
Non-Small Cell Carcinoma of the Lung
Non-Small Cell Cancer of the Lung
Non Small Cell Lung Cancer NOS
NSCLC
Non-Small Cell Lung Cancer
NSCLC - Non-Small Cell Lung Cancer
Non-Small Cell Carcinoma of Lung
Squamous Cell Cancer
Epidermoid Carcinoma
Malignant Squamous Cell Neoplasm
Squamous Cell Epithelioma
Epidermoid Cell Cancer
Squamous Carcinoma
Malignant Squamous Cell Tumor
Malignant Epidermoid Cell Tumor
Malignant Epidermoid Cell Neoplasm
Cardiovascular Disease
Cardiovascular Diseases
Cardiovascular Disorders




Chromosome Anomalies
Chromosomal Aberration
Chromosomal Abnormality
Chromosomal Alterations
Chromosome Abnormality
Chromosome Alterations
Cytogenetic Aberration
Chromosomal Abnormalities
Aberrant Chromosome
Chromosome Aberration
Liver Cirrhosis


Colorectal Cancer
CRC
Large Bowel Cancer
Large Bowel Carcinoma
Cancer of the Large Bowel
Large Intestine Cancer
Cancer of the Large Intestine
Cancer of Large Bowel
Carcinoma of Large Intestine
Carcinoma of the Large Intestine
Carcinoma of Large Bowel
Large Intestine Carcinoma
Cancer of Large Intestine
Carcinoma of the Large Bowel
Genital Wart
Venereal Wart
Crohn's Disease
Cushing's Syndrome
Cylindroid Adenocarcinoma
Adenocystic Carcinoma




Skin Inflammation
Inflammation of Skin
Inflammation of the Skin
Diabetes
Juvenile Diabetes
Type I Diabetes Mellitus
Type I Diabetes
Insulin Dependent Diabetes
Type 1 Diabetes
Insulin Dependent Diabetes Mellitus
DiGeorge Anomaly
DiGeorge's Syndrome
22q11.2 Deletion Syndrome
Downs Syndrome
Trisomy 21
Ollier's Disease
Endodermal Sinus Neoplasm
Yolk Sac Neoplasm
Endodermal Sinus Tumor
Yolk Sac Tumour Site Unspecified

Eosinophilic Xanthomatous Granuloma
Unifocal Langerhans Cell Histiocytosis
WHO Grade II Ependymal Tumor
WHO Grade II Ependymal Neoplasm

Absence Epilepsy
Tumor of Fallopian Tube
Fallopian Tube Tumor
Neoplasm of Fallopian Tube
Neoplasm of the Fallopian Tube
Tumor of the Fallopian Tube
Lignac-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome
Fanconi Syndrome
Neoplasm of Gallbladder
Tumor of the Gallbladder
Tumor of Gallbladder
Gallbladder Tumor
Neoplasm of the Gallbladder
Castleman's Tumor
AFLH
Castleman's Disease
Castleman Disease
GLNH
Giant Lymph Node Hyperplasia
Glioblastoma Multiforme
GBM (Glioblastoma)
Grade IV Astrocytic Tumor
Spongioblastoma Multiforme
Grade IV Astrocytic Neoplasm
Tumor of the Neuroglia
Tumor of Neuroglia
Tumors of Neuroglia
Neoplasm of the Neuroglia
Neuroglial Neoplasms
Neuroglial Neoplasm
Neoplasms of Neuroglia
Glial Neoplasm
Glioma
Glial Tumor
Neoplams of Neuroglia
Glomus Neoplasm
Granulosa Cell Neoplasm
Graves Disease
Multiple Hamartoma Syndrome
Cowden's Disease
Heart Disease
Cardiac Failure Congestive
Cavernous Angioma
Cavernoma

Hemoglobinopathies / Iron Metabolism



Hepatitis A
Viral Hepatitis B
Hepatitis B
NANBH
Non-A, Non-B Hepatitis
Hepatitis C
Primary Carcinoma of the Liver Cells
Primary Carcinoma of Liver Cells
Carcinoma of Liver Cells
Hepatoma
Liver Cell Carcinoma
Carcinoma of the Liver Cells
HCC
Von Hippel-Lindau Syndrome (VHL)
Von Hippel-Lindau Disease
Cerebroretinal Angiomatosis
Histiocytosis X
Langerhans Cel Cranulomatosis
Molar Pregnancy
Hydatid Mole

Hyperplastic
Vascular Hypertensive Disorder
HTN

Vascular Hypotensive Disorder


Beta Cell Neoplasm of the Pancreas
Insulin-Producing Tumor of the Islet Cells
Insulin-Producing Neoplasm of the Islet Cells
Pancreatic Insulin Producing Neoplasm
Beta Cell Neoplasm of Pancreas
Insulin-Producing Islet Cell Tumor
Beta Cell Tumor
Insulin-Producing Tumor of Islet Cells
Insulin-Producing Islet Cell Neoplas,
Pancreatic Beta Cell Tumor
Insulinoma
Beta Cell Neoplasm
Beta Cell Tumor of the Pancreas
Beta Cell Tumor of Pancreas
Insulin-Producing Neoplasm of Islet Cells

Keratosis Palmaris et Plantaris
Tylosis
Unna-Thost Disease
Renal Disease
Kidney Disorder
Kidney Disease
Kidney Tumor
Renal Tumor
Tumor of the Kidney
Kidney Neoplasm
Renal Tumors
Neoplasm of the Kidney
Neoplasm of Kidney
Carcinoma of the Thyroid
Krukenberg Neoplasm


Fibroid Neoplasm
Leiomyomatous Neoplasm
Leiomyomatous Tumor
Fibroid Tumor
Fibroid
Leiomyosarcomas
Leukemias, General
Leukemias
Blood (Leukemia)
CLL
BCLL
B Cell Chronic Lymphocytic Leukemia
B-Cell Chronic Lymphoid Leukemia
Chronic Lymphogenous Leukemia
B-Cell Lymphocytic Leukemia
Chronic Lymphatic Leukemia
B-Cell Chronic Lymphogenous Leukemia
B Cell CLL
B-Cell CLL
B-Cell Chronic Lymphocytic Leukemia
Chronic B-Cell Lymphocytic Leukemia
B Cell Lymphocytic Leukemia
Precursor Lymphoblastic Leukemia
Acute Lymphocytic Leukaemia
ALL - Acute Lymphocytic Leukemia
Acute Lymphoid Leukemia
Precursor Cell Lymphoblastic Leukemia
ALL
Acute Lymphocytic Leukemias
Acute Lymphocytic Leukemia
Acute Lymphogenous Leukemia
Lymphoblastic Leukemia
Childhood Precursor Lymphoblastic Leukemia
Pediatric Acute Lymphoblastic Leukemia
Childhood Acute Lymphogenous Leukemia
Pediatric Acute Lymphogenous Leukemia
Childhood Acute Lymphocytic Leukemia
Pediatric ALL
Childhood Acute Lymphoid Leukemia
Pediatric Acute Lymphocytic Leukemia
Childhood ALL
Pediatric Acute Lymphoid Leukemia
Acute M7 Myeloid Leukemia
FAB M7
Acute Megakaryoblastic Leukemia (FAB Type M7)
Acute Megakaryocytic Leukemia
ANLL
AML
AML - Acute Myeloid Leukemia
Acute Myelogenous Leukemias
Acute Myelogenous Leukemia
Acute Myeloblastic Leukemia
Acute Myelocytic Leukemia
Acute Nonlymphocytic Leukemia

Chronic Myelogenous Leukemias

CML - Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Chronic Myelocytic Leukemia

Chronic Myelogenous Leukemia

Chronic Myeloid Leukemia
Lekemia Plasmacytic
Plasmacytic Leukemia



Liver Disorder
Liver Disease
Chronic Obstructive Lung Disease
Chronic Obstructive Airways Disease
COPD
COLD

Malignant Lymphoma
Lymphoma (Hodgkin's and Non-Hodgkin's)
Lymphoma (Hodgkin and Non-Hodgkin)
Non-Hodgkin's Lymphoma
NHL
Medulloblastomas
Malignant Melanoma
Multiple Endocrine Adenomatosis Type 1
MEA Type I
Multiple Endocrine Adenomatosis Type I
Multiple Endocrine Neoplasia Type I
Multiple Endocrine Neoplasia, Type I
MEN Type I
Wermer Syndrome
Wermer's Syndrome
MEN Type 1
MEA Type 1
MEN 1
Multiple Endocrine Adenomatosis, Type I
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Adenomatosis Type II
MEA Type 2a
Multiple Endocrine Neoplasia, Type II
Multiple Endocrine Adenomatosis, Type II
MEN 2A
MEA Type II
MEN Type II
Multiple Endocrine Adenomatosis Type 2A
Multiple Endocrine Neoplasia Type II
Multiple Endocrine Neoplasia Type 2A
Multiple Endocrine Adenomatosis Type 2a
MEN Type 2a
Multiple Endocrine Neoplasia Type 2b
MEN Type 2B
Multiple Endocrine Adenomatosis Type IIB
MEN 2B
Multiple Endocrine Neoplasia Type IIB
Multiple Endocrine Neoplasia, Type III
Multiple Endocrine Neoplasia Type III
MEN Type IIB
MEN IIB

Myeloma
Multiple Myeloma

MF
Preleukemia
Myelodysplastic Syndrome/Neoplasm
Myelodysplasia
Myelodysplastic Syndromes
MDS
Smoldering Leukemia
Dysmyelopoietic Syndrome
Tumor of Kidney
Myelodysplastic Neoplasm
Oligoblastic Leukemia

Nasopharyngeal Tumor
Neoplasm of Nasopharynx
Nasopharyngeal Neoplasms
Neoplasm of the Nasopharynx
Tumor of Nasopharynx
Tumor of the Nasopharynx
Wilms' Tumor
Neuroblastoma (Schwannian Stroma-Poor)


Peripheral Neurofibromatosis
Von Recklinghausen Disease
Central Neurofibromatosis
Bilateral Acoustic Neurofibromatosis
Acoustic Neurofibromatosis
Vestibular Neurilemmoma
Acoustic Neurilemmoma
Acoustic Neuroma
Acoustic Neurinoma
Neuroma, Acoustic
Vestibular Schwannoma
Neurilemoma, Acoustic

WHO Grade II Oligodendroglial Tumor
Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglial Tumor
WHO Grade II Oligodendroglial Neoplasm
Osteitis Deformans
Paget's Disease
Osseous Paget's Disease
Paget's Disease of the Bone
Pagets Disease (Bone)
Bone Paget Disease
Paget's Disease of Bone
Bone Paget's Disease



Extramammary Paget's Disease
Paget's Disease of the Skin
Paget's Skin Disease
Cutaneous Paget's Disease
Paget's Disease of Skin



Tumor of Paraganglion
Neoplasm of the Paraganglion
Paraganglionic Tumor
Tumor of the Paraganglion
Paraganglion Neoplasm
Neoplasm of Paraganglion
Paraganglion Tumor
Paraganglionic Neoplasm

Peyronie's Disease
Peyronie's Fibromatosis
Penile Induration
Neoplasm of the Peripheral Nervous System
PNS Tumor
Tumor of the Peripheral Nervous System
Neoplasms, PNS
Neoplasm of the PNS
Neoplasms, Peripheral Nervous System
Tumor of the Peripheral Nerve
Peripheral Nerve Tumor
Neoplasm of Peripheral Nervous System
PNS Neoplasms
Tumor of PNS
Tumor of Peripheral Nervous System
Tumor of Peripheral Nerve
Peripheral Nerve Neoplasm
Neoplasm of PNS
Neoplasm of the Peripheral Nerve
Tumor of the PNS
Peripheral Nervous System Tumor
Neoplasm of Peripheral Nerve
Jeghers-Peutz Syndrome
Peutz's Syndrome
Intraadrenal Paraganglioma
Adrenal Pheochromocytoma
Adrenal Gland Paraganglioma
Adrenal Gland Chromaffinoma
Adrenal Medullary Pheochromocytoma
PCC
Adrenal Medullary Paraganglioma
Phaeochromocytoma
Pheochromocytoma
Chromaffin Paraganglioma of the Adrenal Gland
Adrenal Gland Chromaffin Paraganglioma
Neoplasm of Pineal Area
Tumor of the Pineal Area
Neoplasm of Pineal Region
Pinealoma
Pineal Area Tumor
Pineal Body Tumor
Tumor of Pineal Region
Tumor of Pineal Area
Neoplasm of the Pineal Area
Pineal Neoplasm
Pineal Area Neoplasm
Tumor of the Pineal Region
Neoplasm of the Pineal Region
Pineal Body Neoplasm
Pineal Tumor
Pineal Region Tumor
Tumor of the Pituitary
Neoplasm of the Pituitary
Pituitary Neoplasm
Neoplasm of Pituitary
Tumor of the Pituitary Gland
Pituitary Gland Tumor
Pituitary Tumor
Pituitary Neoplasms
Neoplasm of the Pituitary Gland
Tumor of Pituitary Gland
Tumor of Pituitary
Neoplasm of Pituitary Gland
RTS
Polycythaemia Vera
Polycythemia Rubra Vera
Familial Adenomatous Polyposis Coli
Hereditary Adenomatous Polyposis Coli
Polyposis Coli
Familial Adenomatous Polyposis Syndrome
FAP
APC - Adenomatous Polyposis Coli
Familial Adenomatous Polyposis
Neoplasm of the Prostate
Tumor of Prostate
Tumor of the Prostate
Neoplasm of Prostate
Prostate Tumor
Peritoneal Cavity Pseudomyxoma Peritonei
Gelatinous Ascites
Myxoma Peritonei
Mucinous Ascites
Well Differentiated Peritoneal Mucinous Adenocarcinoma
Pseudomyxoma Peritonei

Emphysema
Adult Respiratory Distress Syndrome
Adult RDS
ARDS

Sezary's Disease
Stroke
Stroke Syndrome
CVA
Encephalotrigeminal Syndrome
Sturge-Weber Disease
Superior Vena Cava Obstruction
Tumor of Testis
Testicular Tumor
Neoplasm of the Testis
Tumor of the Testis
Neoplasm of Testis

Trophoblastic Neoplasm
Trophoblastic Neoplasms
TB
Bourneville's Disease
Tuberous Sclerosis Complex
TSC
Urinary Tract Disease
Urologic Disorder
Urinary Tract Disorder
Urological Disorders

Urticaria Pigmentosa

UP/MPCM




Adie Pupil
Tonic Pupil
Congenital Adrenal Hyperplasia
Hemoglobin H Disease
Vaginal Tumor
Neoplasm of Vagina
Vagina Neoplasm
Tumor of the Vagina
Vagina Tumor
Tumor of Vagina
Neoplasm of the Vagina
Lou Gehrig Disease
ALS
Cooley's Anemia
Beta Thalassemia
Cooley Anemia
Congenital Hemolytic Anemia



Sickle Cell Anemia
Coal Miner's Pneumoconiosis


Arterial Sclerosis
Vascular Sclerosis
Barre-Lieou Syndrome
Posterior Cervical Sympathetic Syndrome
Hypokalemic Alkalosis
Bartter's Syndrome

Behcet's Syndrome



Wegener's Granulomatosis


Idiopathic Thrombocytopenia Purpura
Thrombocytopenia Due to Platelet Alloimmunization
Idiopathic Thrombocytopenia
ITP




Progressive Choroidal Atrophy
Chromosome Abnormality Disorder


Allergic Granulomatous Angiitis
Allergic Granulomatosis



Comatose
Conjunctival Xerosis
Cat-Cry Syndrome
5p Deletion Syndrome
Angioma Pigmentosum Atrophicum
Melanosis Lenticularis Progressiva
Kaposi Disease
Kaposi Dermatosis
Atrophoderma Pigmentosum
Xeroderma Pigmentosum Syndrome
Xeroderma of Kaposi
Pigmented Epitheliomatosis

Multi Infarct Dementia
Zollinger-Ellison syndrome

Leptomeningeal Cyst
Keratoconjunctivitis Sicca




Japanese Encephalitis




Polyostotic Fibrous Dysplasia of Bone
Vincent Angina
Vincent's Angina

Lung Purpura with Glomerulonephritis


Cutaneous T-Cell Non-Hodgkin's Lymphoma
T-Cell Non-Hodgkin's Lymphoma of Skin
Skin T-Cell Non-Hodgkin's Lymphoma
Primary Cutaneous T-Cell Non-Hodgkin's Lymphoma
Cutaneous T Cell Lymphoma
T-Cell Non-Hodgkin's Lymphoma of the Skin
CTCL



Dupuytren Contracture
Dupuytren's Contracture

Hirschsprung's Disease
Hirschsprung Disease
Type IIb Hyperlipoproteinemia
AIDS Lymphoma
Lymphoma AIDS Related
Lymphoma, AIDS-Related
HIV Associated Lymphoma
AIDS Related Lymphoma
AIDS-Related Lymphoma
SCID
Chronic Idiopathic Jaundice



Hypogonadotropic Hypogonadism
XXY Syndrome
Klinefelter's Syndrome
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
Legg-Perthes Disease



Visceral Leishmaniasis




Marfan's Syndrome
Mucocutaneous Lymph Node Syndrome


Hereditary Nephritis
Alport's Syndrome

Minimal Change Disease
Lipoid Nephrosis




Osteonecrosis




Hutchinson-Gilford Disease
Premature Senility Syndrome




Retinopathy of Prematurity
Reye's Syndrome



Lung Sarcoidosis
Scheuermann's Disease
Calve's Disease
Takayasu's Arteritis
Osler-Weber-Rendu Disease
Giant Cell Arteritis



Tourette's Syndrome
Tracheo-esophageal Fistula



Esophageal Cancer
Esophagus Carcinoma
Carcinoma of the Esophagus
Cancer of the Esophagus
Carcinoma of Esophagus
Cancer of Esophagus

DIDMOAD


Chloroma
Extramedullary Myeloid Tumor
Malignant Tumor of the Spleen
Malignant Splenic Tumor
Malignant Neoplasm of the Spleen
Malignant Tumor of Spleen
Malignant Neoplasm of Spleen
Splenic Cancer
Cancer of the Spleen

Uterine Cancer
Malignant Tumor of Uterus
Cancer of the Uterus
Malignant Tumor of the Uterus
Cancer of Uterus
Uterine Cancer NOS
Malignant Neoplasm of the Uterus
Malignant Uterine Tumor
Malignant Neoplasm of Uterus
4p Deletion Syndrome
Yellow Fever


Malignant Brain Tumor
Malignant Tumor of the Brain
Malignant Tumor of Brain
Cancer of Brain
Malignant Neoplasm of the Brain
Cancer of the Brain
Malignant Neoplasm of Brain
Brain Neoplasms, Malignant
Brain Cancer
Malignant Brain Neoplasm
IPF
Malignant Pineal Gland Neoplasm
Malignant Pineal Gland Tumor
Malignant Tumor of the Pineal Gland
Malignant Tumor of Pineal Gland
Malignant Pineal Region Tumor
Malignant Neoplasm of Pineal Gland
Malignant Pineal Area Neoplasm
Malignant Pineal Area Tumor
Malignant Neoplasm of the Pineal Gland
Wernicke Encephalopathy



Carcinoma of the Head and Neck
Carcinoma of Head and Neck
Bronchogenic Lung Carcinoma
Bronchial Carcinoma
Bronchiogenic Carcinoma
Rosai-Dorfman Disease

Klatskin Tumor



del(8)

Benign Tumor
Papilloma of the Choroid Plexus
Papilloma of Choroid Plexus
WAGR Syndrome

ALCL
Ki-1+ ALCL
Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1 Lymphoma
CD30 Positive Anaplastic Large Cell Lymphoma
LAM
Lymphangiomyomatosis

Pediatric Hepatoblastoma
Pediatric Embryonal Hepatoma
HBL
FSGS
Blastoma of Lung
Blastoma of the Lung
Pneumoblastoma
Lung Blastoma
Fibrous Histiocytoma

ASPS
Acinar Cell Adenocarcinoma
Acinar Carcinoma
Acinar Adenocarcinoma
Acinic Cell Carcinoma
Acinic Cell Adenocarcinoma
Islet Cell Cancer
Malignant Islet Cell Tumor
Islet Cell Carcinoma
Pancreatic Neuroendocrine Carcinoma
Malignant Pancreatic Endocrine Tumor



Canale-Smith Syndrome
ALPS




Sex Cord-Stromal Neoplasm
Subependymal Glioma
WHO Grade I Ependymal Tumor
WHO Grade I Ependymal Neoplasm

Malignant Tumor of Peripheral Nerve Sheath
Malignant Tumor of the Peripheral Nerve Sheath
Malignant Neurilemoma
Malignant Neoplasm of Peripheral Nerve Sheath
Malignant Neurilemmoma
Malignant Peripheral Nerve Sheath Tumour
Malignant Peripheral Nerve Sheath Neoplasm
Malignant Neoplasm of the Peripheral Nerve Sheath
Malignant Schwannoma
MPNST
Neurofibrosarcoma
Palpitations
Hemangioblastoma
Angioblastoma
Neuroendocrine Tumor
Cancer of the Gallbladder
Cancer of Gallbladder
Gallbladder Cancer
Carcinoma of Gallbladder
Carcinoma of the Gallbladder
Pancreas Cancer
Pancreatic Cancer
Carcinoma of Pancreas
Pancreas Carcinoma
Carcinoma of the Pancreas
Cancer of the Pancreas
Exocrine Pancreas Carcinoma
Cancer of Pancreas
Cancer of Fallopian Tube
Cancer of the Fallopian Tube
Carcinoma of Fallopian Tube
Carcinoma of the Fallopian Tube
Fallopian Tube Cancer
Gastrointestinal Stromal Neoplasm
GIST
Vagina Carcinoma
Vagina Cancer
Carcinoma of the Vagina
Vaginal Cancer
Cancer of the Vagina
Cancer of Vagina
Carcinoma of Vagina

MGUS

Monoclonal Gammopathy of Unknown Significance

Benign Monoclonal Gammopathy
Inflammatory Carcinoma of Breast
Mastitis Carcinomatosa
Inflammatory Breast Cancer
Inflammatory Carcinoma of the Breast
Malignant Neoplasm of Bone
Cancer of the Bone
Osseous Cancer
Malignant Osseous Neoplasm
Malignant Bone Tumor
Malignant Neoplasm of the Bone
Cancer of Bone
Bone Cancer
Malignant Osseous Tumor
Malignant Tumor of the Bone
Malignant Tumor of Bone
Non-Infiltrating Lobular Carcinoma of the Breast
Non-Invasive Lobular Breast Carcinoma
Lobular Carcinoma in situ
Non-Infiltrating Lobular Breast Carcinoma
Lobular Ca in situ of Breast
Non-Invasive Lobular Carcinoma of Breast
Lobular Carcinoma in situ of Breast
Non-Infiltrating Lobular Carcinoma of Breast
Lobular Carcinoma In Situ of the Breast
Non-Infiltrating Lobular Carcinoma
Lobular Ca in situ of the Breast
Non-Invasive Lobular Carcinoma of the Breast
LCIS

High-Grade Cervical Squamous Intraepithelial Lesion

High-Grade Cervical SIL

High-Grade CIN

HSIL of Cervix

Malignant Fibrous Histiocytoma of the Soft Tissue and Bone
Fibroxanthosarcoma
Malignant Fibroxanthoma
MFH
Malignant Fibrous Histiocytoma of Soft Tissue and Bone
Pediatric Kidney Clear Cell Sarcoma
Childhood Renal Clear Cell Sarcoma
Clear Cell Sarcoma of Kidney
CCSK
Childhood Clear Cell Sarcoma of the Kidney
Childhood Kidney Clear Cell Sarcoma
Kidney Clear Cell Sarcoma
Renal Clear Cell Sarcoma
Pediatric Renal Clear Cell Sarcoma
Histiocytoid Hemangioma
Angiolymphoid Hyperplasia with Eosinophilia




Pregnancy Induced Hypertension
Islet Cell Adenomatosis
Persistent Hyperinsulinemic Hypoglycemia of Infancy
Impaired Renal Function
Multiple Symmetrical Lipomatosis
Cholangiocellular Carcinoma
Cholangiosarcoma
Psittacosis
Large Granular Lymphocytosis
LGLL
T Gamma Lymphoproliferative Disorder
Tgamma Large Granular Lymphocyte Leukemia
Large Granular Lymphocytic Leukemia
T-Cell Large Granular Lymphocyte Leukemia
T-Cell Large Granular Lymphocytic Leukemia
Large Cell Granular Lymphogenous Leukemia
Large Cell Granular Lymphoid Leukemia
T-Gamma Lymphoproliferative Disorder
Linear Sebaceous Nevus
Nevus Sebaceous of Jadassohn




Opsoclonus-Myoclonus Syndrome


Atrial Myxoma with Lentigines
NAME
Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome
Carney Complex
Carney's Syndrome
LAMB
Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome
Cancer of the Eye
Malignant Ocular Neoplasm
Malignant Ocular Tumor
Malignant Tumor of the Eye
Eye Neoplasm, Malignant
Malignant Neoplasm of the Eye
Malignant Neoplasm of Eye
Malignant Tumor of Eye
Malignant Eye Tumor
Eye Cancer
Cancer of Eye
Mammary Paget's Disease
Paget's Disease of the Breast
Paget's Disease of Breast

Perineurial Cyst
Nerve Root Cyst
Tarlov Cyst
Cyst of Nerve Root
Cyst of the Nerve Root

Carcinoma of Thyroid
Carcinoma of Thyroid Gland
Cancer of the Thyroid
Thyroid Carcinoma
Carcinoma of the Thyroid Gland
Head and Neck Cancer, Thyroid
Thyroid Cancer
Cancer of Thyroid
Thyroid Gland Cancer
ES
Ewing's Tumor
Ewing's Sarcoma



Vulva Carcinoma
Carcinoma of the Vulva
Cancer of the Vulva
Cancer of Vulva
Carcinoma of Vulva
Vulva Cancer
Vulvar Cancer
Carcinoma of Breast
Cancer of Breast
Cancer of the Breast
Carcinoma of the Breast
Mammary Carcinoma
Breast Cancer
Carcinoma of Lung
Carcinoma of the Lung
Cancer of the Lung
Cancer of Lung
Lung Cancer
Parathyroid Gland Adenocarcinoma
Cancer of Parathyroid Gland
Parathyroid Adenocarcinoma
Cancer of the Parathyroid Gland
Adenocarcinoma of the Parathyroid Gland
Carcinoma of Parathyroid
Parathyroid Carcinoma
Carcinoma of Parathyroid Gland
Parathyroid Cancer
Adenocarcinoma of Parathyroid
Adenocarcinoma of Parathyroid Gland
Carcinoma of the Parathyroid Gland
Carcinoma of the Parathyroid
Adenocarcinoma of the Parathyroid
Stomach Cancer
Carcinoma of the Stomach
Cancer of the Stomach
Cancer of Stomach
Carcinoma of Stomach
Gastric Cancer
Stomach Carcinoma
Cancer of the Urinary Bladder
Cancer of the Bladder
Carcinoma of the Urinary Bladder
Carcinoma of Bladder
Bladder Cancer
Carcinoma of Urinary Bladder
Urinary Bladder Carcinoma
Cancer of Urinary Bladder
Cancer of Bladder
Carcinoma of the Bladder
Urinary Bladder Cancer
Trichothiodystrophy Syndrome
DVT
Disease Associated with AIDS
Speech Disorder
AF
AFib
Heart Arrest
Asystole

Hair Loss
Alopecia Areata
Heart Failure
Mitral Valve Prolapse Syndrome
Floppy Mitral Valve



Toxemia



Osteochondromatosis


Malignant Eccrine Poroma
Epidermotropic Eccrine Carcinoma

PNH
Diamond-Blackfan Anemia




Globoid Cell Leukodystrophy
Mucopolysaccharidosis Type II

Mucopolysaccharidosis Type IV
Mucopolysaccharidosis Type VI




Aspartylglucosaminuria



Cancer of the Endometrium
Corpus Uteri Cancer
Cancer of the Corpus Uteri
Cancer of Endometrium
Endometrium Cancer
Endometrial Cancer
Germinoma of the Childhood Brain
Pediatric Brain Germinoma
Germinoma of Childhood Brain
Germinoma of the Pediatric Brain
Germinoma of Pediatric Brain
Panmyelopathy, Fanconi
Primary Erythroid Hypoplasia
Pancytopenia, Congenital
Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome
Fanconi's Anemia
Oral Dysesthesia


Acute Vascular Leak Syndrome
CLS
AVLS
Pituitary Insufficiency


Multiple Endocrine Neoplasia Syndrome
MEN
Multiple Endocrine Adenomatosis NOS
Multiple Endocrine Adenomatosis
Islet Cell Adenoma
Variant Angina Pectoris
Prinzmetal's Angina

Menetrier Disease
Menetrier's Disease
Gardner's Syndrome
Junctional Epidermolysis Bullosa
Stromal Tumor
von Willebrand's Disease
PEL
Body Cavity-Based Lymphoma

Subcutaneous Panniculitis-Like T-Cell Lymphoma, Alpha/Beta Type

SPTCL

Subcutaneous Panniculitis-Like T-Cell Lymphoma (Alpha/Beta Type)
MPA


Paget Cell Neoplasm
Paget's Cell Neoplasm
Paget's Disease



Asymptomatic Myeloma
Asymptomatic Plasma Cell Myeloma
Smoldering Plasma Cell Myeloma
Kikuchi-Fujimoto Disease


Diffuse Scleroderma
Systemic Sclerosis
Diffuse Sclerosis
Calcifying Epithelioma of Malherbe
Benign Pilomatricoma
Pilomatrixoma
Benign Pilomatrixoma
HCL
Leukemic Reticuloendotheliosis

Malignant Tumor of Ovary
Malignant Ovarian Tumor
Malignant Tumor of the Ovary
Malignant Neoplasm of Ovary
Ovarian Cancer
Malignant Neoplasm of the Ovary
Cancer of Ovary
Cancer of the Ovary
Squamous Lung Dysplasia




Mandibulofacial Dysostosis
Cleidocranial Dysostosis
Langer-Giedion Syndrome
Hereditary Osteo-Onychodysplasia
RB
11q Terminal Deletion Disorder




Hereditary Sensorimotor Neuropathy
Hereditary Motor and Sensory Neuropathy




Kinky Hair Syndrome




Acrospiroma
Eccrine Acrospiroma



Childhood Neoplasm of the Brain
Pediatric Tumor of the Brain
Pediatric Brain Tumor
Childhood Neoplasm of Brain
Pediatric Tumor of Brain
Pediatric Neoplasm of Brain
Pediatric Neoplasm of the Brain
Childhood Tumor of Brain
Pediatric Brain Neoplasm
Brain Neoplasms, Childhood
Childhood Tumor of the Brain
Childhood Brain Tumor
Pediatric Rhabdomyosarcoma
Mucormycosis
Carcinoma of the Small Intestine
Carcinoma of Small Intestine
Small Bowel Carcinoma
Carcinoma of Small Bowel
Cancer of the Small Bowel
Small Intestine Cancer
Carcinoma of the Small Bowel
Cancer of Small Bowel



Wound Healing Complication
TTP
Moschowitz Disease

Cancer of the Liver and Intrahepatic Biliary Tract

Primary Liver Carcinoma

Liver and Intrahepatic Bile Duct Cancer

Liver and Intrahepatic Biliary Tract Cancer

Cancer of the Liver

Cancer of Liver

Hepatic Cancer

Cancer of Liver and Intrahepatic Biliary Tract

Liver and Intrahepatic Bile Duct Carcinoma

Liver Cancer



Lyell Syndrome
TEN
Chronic Renal Disease

s Macroglobulinemia




Midline Lethal Granuloma of Nasal Cavity and Paranasal Sinus

Midfacial Necrotising Lesion

Midline Lethal Granuloma of the Nasal Cavity and Paranasal Sinus
Spinocerebellar Degeneration
Huntington's Chorea
HD
Huntington Disease

Hailey-Hailey Disease
Benign Familial Pemphigus

Mast Cell Disease



Eisenmenger's Syndrome
Age-Related Macular Degeneration
Acute Hepatic Failure
A1AD
A-1ATD
Weight Loss Surgery




Metabolic Syndrome X




CMD




Holes in the Heart




Peripheral Arterial Disease
PAD
RLS
Acatalasia




LCAD

MCAD

SCAD

Dercum Disease
Dercum's Disease




Dactylolysis




Amniotic Band Constriction
Balkan Nephropathy




Geographic Tongue

Congenital Generalized Lipodystrophy




CFC
Centronuclear Myopathy




Crouzon Syndrome




Elastolysis

Keratosis Follicularis




Alpers Syndrome
DISH
Forestier's Disease
DPD Deficiency


Distal Myopathy

Guinea Worm Disease
Duane Retraction Syndrome




Endemic Flea-Borne Typhus
Epidemic Typhus Fever




Fifth Disease

CEP
EPP

Alpha-Galactosidase A Deficiency




Hemophilia C




Felty's Syndrome




Friedreich's Ataxia
Fuchs' Endothelial Dystrophy




Bowed Legs




Hallermann's Syndrome




Wilson Disease
Wilson's Disease
Anal Atresia




Infantile Spasm




Asphyxiating Thoracic Dystrophy




Acquired Epileptic Aphasia
Wallenberg's Syndrome
Wallenberg Syndrome




Hansen's Disease
Weil Disease
Lewy Body Disease
Spinocerebellar Ataxia Type 3




Degos Disease




Moebius Syndrome




Sanfilippo A
Sanfilippo B
Sanfilippo C
Sanfilippo D



Mucopolysaccharidosis Type VII



Perheentupa Syndrome
Spinal Dysraphism




Devic Syndrome



Nonketotic Hyperglycinemia



Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2)
Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2)
HNPCC
Hereditary Defective Mismatch Repair Syndrome
Hereditary Nonpolyposis Colon Cancer
Lynch Syndrome
Hereditary Colorectal Endometrial Cancer Syndrome




Postural Hypotension




Familial Melanoma
Familial Cutaneous Melanoma
Hereditary Cutaneous Melanoma




Papillon-Lefevre Disease
Pick Disease




Steele-Richardson-Olszewski Syndrome



Face Blindness

Eagle-Barrett Syndrome

Idiopathic Intracranial Hypertension
De Morsier Syndrome
SARS

Multiple System Atrophy




Cervical Dystonia




Stiff-Person Syndrome
Mounier-Kuhn Syndrome



Trichinellosis



Triploid Syndrome




Vogt-Koyanagi-Harada Syndrome




Whipple's Disease
Pertussis
Williams-Beuren Syndrome
Kennedy Disease
X-Linked Hypophosphatemia


XYY Karyotype



NED
Malignant Rhabdoid Tumor of the Kidney
Renal Rhabdoid Tumor
Kidney Rhabdoid Tumor
Malignant Rhabdoid Tumor of Kidney
Rhabdoid Tumour of Kidney
Rhabdoid Neoplasm of Kidney
Rhabdoid Neoplasm of the Kidney
MRTK
Rhabdoid Tumour of the Kidney
Renal Rhabdoid Neoplasm
Hallervorden-Spatz Syndrome
NBIA 1
ESS
Lip and Oral Cavity Neoplasm
Oral Tumor
Lip and Oral Cavity Tumor
Lip and Oral Cavity Tumour
Keratosis Seborrheica
Basal Cell Papilloma
Carcinoma of the Cervix
Uterine Cervix Cancer
Cervix Carcinoma
Cancer of the Cervix
Cervical Cancer
Cancer of Cervix
Cervix Uteri Carcinoma
Carcinoma of Cervix
Carcinoma of the Cervix Uteri
Cervix Cancer
Carcinoma of Uterine Cervix
Uterine Cervix Carcinoma
Cancer of the Uterine Cervix
Cancer of Uterine Cervix
Carcinoma of Cervix Uteri
Carcinoma of the Uterine Cervix
Kaposi Sarcoma
KS
Kaposi - Kaposi's Sarcoma
Multiple Hemorrhagic Sarcoma
Kaposi's Sarcoma
Sarcoma of the Soft Tissue and Bone
Sarcoma of Soft Tissue and Bone
Osteogenic Sarcoma
Neuroendocrine Carcinoma of Skin
Neuroendocrine Skin Carcinoma
Cutaneous Neuroendocrine Carcinoma
Trabecular Skin Carcinoma
Neuroendocrine Carcinoma of the Skin
Cutaneous Apudoma
Juvenile Chronic Myeloid Leukemia
JCML
JMML
Juvenile Chronic Myelogenous Leukemia
Systemic Tissue Mast Cell Disease
Seminoma, Pure
Cancer of the Appendix
Cancer of Appendix
Carcinoma of the Appendix
Carcinoma of Appendix

Hodgkin's Lymphoma
HL
Hodgkin's Disease
Precursor Lymphoblastic Lymphoma
Precursor Cell Lymphoblastic Lymphoma
Kidney Adenocarcinoma
RCC
Renal Cell Carcinoma, Stage Unspecified
Renal Cell Adenocarcinoma
Adenocarcinoma of the Kidney
Adenocarcinoma of Kidney
Renal Cell Cancer
Chronic Renal Disease



Body Fat
Adrenals
Adrenal Glands
Waters (Amniotic Fluid)
Aqua Amnii
Liquor Amnii
Anal
Aortic
Vermiform Appendix

Arterial



Tract, Biliary
Bile Tract
Urinary Bladder
Urinary System, Bladder
Peripheral Blood
Reticuloendothelial System, Blood
Vessel
Osseous
Reticuloendothelial System, Bone Marrow

Brainstem
Breasts



Cartilagenous
Cerebellar
CSF
Cervix
Uterine Cervix
Genital System, Female, Cervix




Endocardial
Endotheliocyte
Epididymal
Gastrointestinal Tract, Esophagus
Eyeball
Optic
Ophthalmic
Oviduct
Fallopian Tubes

Floor of the Mouth
Pedal
Gallbladder / Biliar
Gastrointestinal Tract, Gall Bladder
Gonadal

Cardiac
Laryngopharynx


Articulation
Articular
Articular Capsule
Urinary System, Kidney
Knee

Large Bowel
Head and Neck, Larynx


White Cell
Reticuloendothelial System, Leukocytes
White Blood Cell



Gastrointestinal Tract, Liver
Hepatic Body System
Hepatic Organ System
Liver
Organ System, Hepatic
Body System, Hepatic
Respiratory System, Lung
Reticuloendothelial System, Lymph Node
Lymph Gland

Foreskin
Preputium Penis




Milk
Mammary Gland Milk
Muscular
Heart Muscle
Myocardial Tissue
Cardiac Muscle




Polymorphonuclear Cell
Polymorphonuclear Neutrophils

Omental Fat
Mouth
Buccal Cavity
Head and Neck, Buccal Cavity
Oral
Orally

Ovaries
Genital System, Female, Ovary
Gastrointestinal Tract, Pancreas
Nasal Sinuses
Paranasal Sinuses
Nasal and Sinuses
Nasal Sinus
Sinuses, Nasal
Sinuses, Paranasal
Parathyroid
Head and Neck, Parathyroid



PBMC
Adenoid



Hypophysis
Nervous System, Pituitary
Hypophysis Cerebri
Pituitary
Placental


Thrombocyte
Reticuloendothelial System, Platelets
Prostate
Genital System, Male, Prostate
Prostatic Gland
Hemorrhoidal
Head and Neck, Salivary Glands
Seminal Sacs
Integument
Small Bowel
Gastrointestinal Tract, Small Intestine
Medulla Spinalis
Splenic
Reticuloendothelial System, Spleen
Gastrointestinal Tract, Stomach
Gastric
Synovia
Synovium


Testicle
Testes
Genital System, Male, Testis
Thymus Gland
Reticuloendothelial System, Thymus
Thymus
Thyroid
Head and Neck, Thyroid



Teeth



Cord Blood
Ureter


Utero
Uterine
Genital System, Female, Uterus
Genital System, Female, Vagina

Venous


Spine
Spinal Column
External Genitalia
Native American
Native Americans
AMERICAN INDIAN OR ALASKA NATIVE
First Nations
African American
Black
Afro American
Black Populations
BLACK OR AFRICAN AMERICAN
Caucasian
Caucasoid
Occidental
Whites
WHITE
NATIVE HAWAIIAN OR OTHER PACIFIC ISLANDER
HISPANIC OR LATINO
Hispanic
Hispanic Populations
Hispanics or Latinos
Latino Population
Spanish Origin
Non-Hispanic or Latino
Non-Hispanic
NOT HISPANIC OR LATINO
Not Hispanic/Spanish Origin


Not Stated


not stated


Not Known


Unknown/Not Stated


UNKNOWN
Male Gender, Self Reported
Male Gender, Self Report
Male
Female Gender, Self Reported
Female Gender, Self Report
Female
Not Specified

				
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