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loading...| Preferred Name |
DiGeorge Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2989 |
| code |
C2989 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| DEFINITION |
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart 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. |
| FULL_SYN |
DiGeorge Sequence Velo-Cardio-Facial Syndrome 22q11.2 Deletion Syndrome Velocardiofacial Syndrome DiGeorge Anomaly DiGeorge's Syndrome Sphrintzen VCF |
| Has_NICHD_Parent | |
| label |
DiGeorge Syndrome |
| Legacy_Concept_Name |
DiGeorge_s_Syndrome |
| NICHD_Hierarchy_Term |
DiGeorge Syndrome |
| Preferred_Name |
DiGeorge Syndrome |
| prefixIRI |
C2989 |
| prefLabel |
DiGeorge Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0012236 |
| subClassOf |