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Descritor em português: Esfingolipidoses
Descritor em inglês: Sphingolipidoses
Descritor em espanhol: Esfingolipidosis
Descritor esfingolipidosis
Nota de escopo: Grupo de trastornos metabólicos hereditarios que se caracterizan por una deposición intralisosómica excesiva de glucoesfingolípidos y fosfoesfingolípidos en el SISTEMA NERVIOSO CENTRAL y, con grado variable, en las estructuras viscerales. Las características clínicas varían según el subtipo específico de la enfermedad, pero las características comunes incluyen deterioro progresivo de la función psicomotora y visual. (Arch Neurol 1998 Aug;55(8):1055-6; Menkes, Textbook of Child Neurology, 5th ed, p89)
Descritor em francês: Sphingolipidoses
Termo(s) alternativo(s): Sphingolipid Storage Disease
Sphingolipid Storage Diseases
Sphingolipidosis
Storage Disease, Sphingolipid
Storage Diseases, Sphingolipid
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
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.
Nota de indexação: general or unspecified; prefer specifics
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
Nota MeSH pública: 1992; see SPHINGOLIPIDOSIS 1974-91
Nota histórica: 1992(1974)
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
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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