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| Descritor em português: | Síndrome de Marfan | ||||||
| Descritor em inglês: | Marfan Syndrome | ||||||
| Descritor em espanhol: |
Síndrome de Marfan
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| Descritor em francês: | Syndrome de Marfan | ||||||
| Termo(s) alternativo(s): |
Marfan Like Connective Tissue Disorder Marfan Syndrome Type 1 Marfan Syndrome Type 2 Marfan Syndrome, Type I Marfan Syndrome, Type II Marfan's Syndrome Marfans Syndrome |
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| Código(s) hierárquico(s): |
C05.116.099.674 C14.240.400.725 C14.280.400.725 C16.131.077.550 C16.131.240.400.720 C16.320.540 C17.300.500 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D008382 | ||||||
| Nota de escopo: | An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
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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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| Nota MeSH pública: | 1985; see ARACHNODACTYLY 1963-1984 |
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| Nota histórica: | 1985; use ARACHNODACTYLY 1963-1984 |
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| Veja também os descritores: |
Loeys-Dietz Syndrome
MeSH Weill-Marchesani Syndrome MeSH | ||||||
| Identificador DeCS: | 8554 | ||||||
| ID do descritor: | D008382 | ||||||
| Classificação da NLM: | WD 375 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/1985 | ||||||
| Data de entrada: | 01/01/1999 | ||||||
| Data de revisão: | 17/05/2019 |
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Marfan Syndrome
- Conceito preferido
Marfan Syndrome Type 1
- Mais específico
Marfan Syndrome Type 2
- Conceito preferido
| Identificador do conceito |
M0013029 |
| Nota de escopo | An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
| Termo preferido | Marfan Syndrome |
| Termo(s) alternativo(s) |
Marfan's Syndrome Marfans Syndrome |
| Identificador do conceito |
M000649009 |
| Termo preferido | Marfan Syndrome Type 1 |
| Termo(s) alternativo(s) |
Marfan Syndrome, Type I |
| Identificador do conceito |
M0530372 |
| Termo preferido | Marfan Syndrome Type 2 |
| Termo(s) alternativo(s) |
Marfan Like Connective Tissue Disorder Marfan Syndrome, Type II |
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