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Descritor em português: | Síndrome de Rubinstein-Taybi | ||||||
Descritor em inglês: | Rubinstein-Taybi Syndrome | ||||||
Descritor em espanhol: |
Síndrome de Rubinstein-Taybi
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Descritor em francês: | Syndrome de Rubinstein-Taybi | ||||||
Termo(s) alternativo(s): |
Broad Thumb Hallux Syndrome Broad Thumb-Hallux Syndrome Broad Thumb-Hallux Syndromes Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein Syndrome Rubinstein Taybi Syndrome Syndrome, Broad Thumb-Hallux Syndrome, Rubinstein Syndrome, Rubinstein-Taybi Syndromes, Broad Thumb-Hallux |
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Código(s) hierárquico(s): |
C05.116.099.370.797 C05.660.207.850 C10.597.606.360.700 C16.131.077.804 C16.131.260.790 C16.131.621.207.850 C16.320.180.790 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D012415 | ||||||
Nota de escopo: | A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
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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: |
Abnormalities, Multiple (1968-1971) Mental Retardation (1966-1971) |
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Nota MeSH pública: | 91; was see under ABNORMALITIES, MULTIPLE 1972-90 |
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Nota histórica: | 91(72); was see under ABNORMALITIES, MULTIPLE 1972-90 |
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Veja também os descritores: |
Intellectual Disability
MeSH | ||||||
Identificador DeCS: | 12788 | ||||||
ID do descritor: | D012415 | ||||||
Classificação da NLM: | QS 675 | ||||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
Data de estabelecimento: | 01/01/1991 | ||||||
Data de entrada: | 01/01/1999 | ||||||
Data de revisão: | 30/06/2018 |
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Rubinstein-Taybi Syndrome
- Conceito preferido
Identificador do conceito |
M0019298 |
Nota de escopo | A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
Termo preferido | Rubinstein-Taybi Syndrome |
Termo(s) alternativo(s) |
Broad Thumb Hallux Syndrome Broad Thumb-Hallux Syndrome Broad Thumb-Hallux Syndromes Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein Syndrome Rubinstein Taybi Syndrome Syndrome, Broad Thumb-Hallux Syndrome, Rubinstein Syndrome, Rubinstein-Taybi Syndromes, Broad Thumb-Hallux |
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