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Descriptor English: 22q11 Deletion Syndrome
Descriptor Spanish: Síndrome de Deleción 22q11
Descriptor Portuguese: Síndrome da Deleção 22q11
Descriptor French: Syndrome de délétion 22q11
Entry term(s): 22q11 Deletion Syndromes
Deletion Syndrome, 22q11
Deletion Syndromes, 22q11
Syndrome, 22q11 Deletion
Syndromes, 22q11 Deletion
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
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Chromosome Deletion (1997-2010)
Chromosomes, Human, Pair 22 (1997-2010)
Public MeSH Note: 2011
History Note: 2011
DeCS ID: 53952
Unique ID: D058165
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2011/01/01
Date of Entry: 2010/06/25
22q11 Deletion Syndrome - Preferred
Concept UI M0537456
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.
Preferred term 22q11 Deletion Syndrome
Entry term(s) 22q11 Deletion Syndromes
Deletion Syndrome, 22q11
Deletion Syndromes, 22q11
Syndrome, 22q11 Deletion
Syndromes, 22q11 Deletion



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