Visão selecionada em Inglês
Descritor em português: | Esfingolipidoses | ||||
Descritor em inglês: | Sphingolipidoses | ||||
Descritor em espanhol: |
Esfingolipidosis
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Descritor em francês: | Sphingolipidoses | ||||
Termo(s) alternativo(s): |
Sphingolipid Storage Disease Sphingolipid Storage Diseases Sphingolipidosis Storage Disease, Sphingolipid Storage Diseases, Sphingolipid |
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Código(s) hierárquico(s): |
C10.228.140.163.100.435.825 C16.320.565.189.435.825 C16.320.565.398.641.803 C16.320.565.595.554.825 C18.452.132.100.435.825 C18.452.584.563.641.803 C18.452.648.189.435.825 C18.452.648.398.641.803 C18.452.648.595.554.825 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D013106 | ||||
Nota de escopo: | A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
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Nota de indexação: | general or unspecified; prefer specifics |
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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: | 1992; see SPHINGOLIPIDOSIS 1974-91 |
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Nota histórica: | 1992(1974) |
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Identificador DeCS: | 30418 | ||||
ID do descritor: | D013106 | ||||
Classificação da NLM: | WD 205.5.L5 | ||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||
Data de estabelecimento: | 01/01/1974 | ||||
Data de entrada: | 01/01/1999 | ||||
Data de revisão: | 05/07/2006 |
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Sphingolipidoses
- Conceito preferido
Identificador do conceito |
M0020298 |
Nota de escopo | A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
Termo preferido | Sphingolipidoses |
Termo(s) alternativo(s) |
Sphingolipid Storage Disease Sphingolipid Storage Diseases Sphingolipidosis Storage Disease, Sphingolipid Storage Diseases, Sphingolipid |
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