Pesquisa
Descritor em português: Cistinose
Descritor em inglês: Cystinosis
Descritor em espanhol: Cistinosis
Descritor cistinosis
Nota de escopo: Trastornos por tesaurismosis lisosómica cuyo defecto molecular se desconoce, caracterizados por el depósito generalizado de cristales de cistina en las células reticuloendoteliales. (Dorland, 28a ed)
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
Código(s) hierárquico(s): C16.320.565.595.377
C18.452.648.595.377
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.
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
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
Cystinosis - Conceito preferido
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
Nephropathic Cystinosis - Mais específico
Identificador do conceito M000638431
Termo preferido Nephropathic Cystinosis
Termo(s) alternativo(s) Cystinoses, Nephropathic
Cystinosis, Nephropathic
Nephropathic Cystinoses



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