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Version: 17.08d (Release date: 2017-08-28)
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DiGeorge Syndrome (Code C2989)

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Terms & Properties

Preferred Name: DiGeorge Syndrome

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.

NICHD Definition: A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism.

Label: DiGeorge Syndrome

NCI Thesaurus Code: C2989 (Search for linked caDSR metadata)  (search value sets)

NCI Metathesaurus Link: C0012236  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)
22q11.2 Deletion Syndrome
22q Deletion Syndrome(s)
DiGeorge's Syndrome
DiGeorge Anomaly
DiGeorge Sequence
DiGeorge Syndrome
DiGeorge Syndrome Type 1
Shprintzen Syndrome
Velo-Cardio-Facial Syndrome
Velocardiofacial Syndrome

External Source Codes: 
UMLS CUI C0012236

Other Properties:
     Name Value (qualifiers indented underneath)
code C2989
Contributing_Source NICHD
Legacy_Concept_Name DiGeorge_s_Syndrome
NICHD_Hierarchy_Term 22q Deletion Syndrome(s)
Semantic_Type Disease or Syndrome

Additional Concept Data: 
Defined Fully by Roles: No  


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