22q11 Deletion Syndrome (also known as 22q11 Deletion Syndromes, Deletion Syndrome, 22q11): 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
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 classification
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
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What does 22q11 Deletion Syndrome mean in medicine?
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. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is 22q11 Deletion Syndrome known by any other names?
Yes. 22q11 Deletion Syndrome is also referred to as 22q11 Deletion Syndromes, Deletion Syndrome, 22q11, Deletion Syndromes, 22q11, Syndrome, 22q11 Deletion in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does 22q11 Deletion Syndrome sit in the medical classification?
22q11 Deletion Syndrome falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C05.660.207.103, C14.240.400.021, C14.280.400.044). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of 22q11 Deletion Syndrome?
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