Visão selecionada em Inglês
Descritor em português: | Cistinose | ||||
Descritor em inglês: | Cystinosis | ||||
Descritor em espanhol: |
Cistinosis
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Descritor em francês: | Cystinose | ||||
Termo(s) alternativo(s): |
Cystine Diatheses Cystine Diathesis Cystine Disease Cystine Diseases Cystine Storage Disease Cystine Storage Diseases Cystinoses Cystinoses, Nephropathic Cystinosin, Defect of Cystinosis, Nephropathic Defect of Cystinosin Diatheses, Cystine Diathesis, Cystine Lysosomal Cystine Transport Protein, Defect Of Nephropathic Cystinoses Nephropathic Cystinosis Storage Disease, Cystine Storage Diseases, Cystine |
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Código(s) hierárquico(s): |
C16.320.565.595.377 C18.452.648.595.377 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D003554 | ||||
Nota de escopo: | A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI 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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Identificador DeCS: | 3572 | ||||
ID do descritor: | D003554 | ||||
Classificação da NLM: | WJ 301 | ||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||
Data de estabelecimento: | 01/01/1966 | ||||
Data de entrada: | 01/01/1999 | ||||
Data de revisão: | 10/10/2018 |
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Cystinosis
- Conceito preferido
Nephropathic Cystinosis
- Mais específico
Identificador do conceito |
M0005556 |
Nota de escopo | A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. |
Termo preferido | Cystinosis |
Termo(s) alternativo(s) |
Cystine Diatheses Cystine Diathesis Cystine Disease Cystine Diseases Cystine Storage Disease Cystine Storage Diseases Cystinoses Cystinosin, Defect of Defect of Cystinosin Diatheses, Cystine Diathesis, Cystine Lysosomal Cystine Transport Protein, Defect Of Storage Disease, Cystine Storage Diseases, Cystine |
Identificador do conceito |
M000638431 |
Termo preferido | Nephropathic Cystinosis |
Termo(s) alternativo(s) |
Cystinoses, Nephropathic Cystinosis, Nephropathic Nephropathic Cystinoses |
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