National Drug File - Reference Terminology - 22q11 Deletion Syndrome [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Preferred Name	22q11 Deletion Syndrome [Disease/Finding]
Synonyms	22q11 Deletion Syndrome
ID	http://purl.bioontology.org/ontology/NDFRT/N0000182241
altLabel	22q11 Deletion Syndrome
cui	C2936346
MESH DEFINITION	Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
MESH DUI	D058165
MeSH name	22q11 Deletion Syndrome
MESH UI	M0537456
NDFRT kind	DISEASE_KIND
notation	N0000182241
NUI	N0000182241
prefLabel	22q11 Deletion Syndrome [Disease/Finding]
tui	T047
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000000266

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D058165	MESH	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D058165	MSHFRE	CUI