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22q11 Deletion Syndrome MeSH Descriptor Data 2022


MeSH Heading
22q11 Deletion Syndrome
Tree Number(s)
C05.660.207.103
C14.240.400.021
C14.280.400.044
C15.604.451.249
C16.131.077.019
C16.131.240.400.021
C16.131.260.019
C16.131.482.249
C16.131.621.207.103
C16.320.180.019
C19.642.482.500
Unique ID
D058165
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D058165
Scope Note
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.
Previous Indexing
Chromosome Deletion (1997-2010)
Chromosomes, Human, Pair 22 (1997-2010)
Public MeSH Note
2011
History Note
2011
Date Established
2011/01/01
Date of Entry
2010/06/25
22q11 Deletion Syndrome Preferred
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