22q11 deletion syndrome

Preferred Label : 22q11 deletion syndrome;

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 synonym : 22q11 deletion syndromes; deletion syndrome, 22q11; deletion syndromes, 22q11; syndrome, 22q11 deletion; syndromes, 22q11 deletion;

Wikipedia link : https://en.wikipedia.org/wiki/22q11 deletion syndrome;

Details

Origin ID

D058165;

UMLS CUI

C2936346;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- 22q11.2 Deletion Syndrome [NCIt concept]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- CATCH 22 phenotype [ICD-11 Sub-sub category]
- Di George's syndrome [ICD-10 Sub-category]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [DO Concept]
- DiGeorge syndrome [PASCAL descriptor]
- DiGeorge syndrome [Disease (Nov.)]
- DiGeorge's syndrome [MedDRA Preferred Term]
- Digeorge syndrome [OMIM Phenotype]
- Digeorge's syndrome [ICD-9 code]
- Thymic-parathyroid aplasia [MedDRA LLT]
- digeorge sequence [SNOMED Notion]
- velocardiofacial syndrome [DO Concept]
ORDO relation(s)
- 22q11.2 deletion syndrome [ORDO Disease]
Record concept(s)
- 22q11 deletion syndrome [MeSH concept]
See also (suggested by CISMeF)
- chromosome deletion [MeSH Descriptor]
See also inter- (CISMeF)
- 22q11.2 deletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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