You have selected the view in English
| 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 |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
