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Metadata
DOID DOID:11198
Name DiGeorge syndrome
Definition A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
http://www.merriam-webster.com/medlineplus/DiGeorge%20syndrome, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome
Xrefs

GARD:10299

ICD10CM:D82.1

ICD9CM:279.11

MESH:D004062

MTHICD9_2006:279.11

NCI2004_11_17:C2989

NCI:C2989

OMIM:188400

SNOMEDCT_US_2018_03_01:77128003

UMLS_CUI:C0012236

Subsets

NCIthesaurus

Synonyms

22q11.2 deletion syndrome [EXACT]

DiGeorge sequence [EXACT]

DiGeorge's syndrome [EXACT]

Pharyngeal pouch syndrome [EXACT]

Relationships

is_a chromosomal deletion syndrome

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