Visão selecionada em Inglês
Descritor em português: | Síndrome da Deleção 22q11 | ||||
Descritor em inglês: | 22q11 Deletion Syndrome | ||||
Descritor em espanhol: |
Síndrome de Deleción 22q11
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Descritor em francês: | Syndrome de délétion 22q11 | ||||
Termo(s) alternativo(s): |
22q11 Deletion Syndromes Deletion Syndrome, 22q11 Deletion Syndromes, 22q11 Syndrome, 22q11 Deletion Syndromes, 22q11 Deletion |
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Código(s) hierárquico(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 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D058165 | ||||
Nota de escopo: | 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. |
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Qualificadores permitidos: |
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 |
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Indexação Anterior: |
Chromosome Deletion (1997-2010) Chromosomes, Human, Pair 22 (1997-2010) |
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Nota MeSH pública: | 2011 |
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Nota histórica: | 2011 |
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Identificador DeCS: | 53952 | ||||
ID do descritor: | D058165 | ||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||
Data de estabelecimento: | 01/01/2011 | ||||
Data de entrada: | 25/06/2010 |
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22q11 Deletion Syndrome
- Conceito preferido
Identificador do conceito |
M0537456 |
Nota de escopo | 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. |
Termo preferido | 22q11 Deletion Syndrome |
Termo(s) alternativo(s) |
22q11 Deletion Syndromes Deletion Syndrome, 22q11 Deletion Syndromes, 22q11 Syndrome, 22q11 Deletion Syndromes, 22q11 Deletion |
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