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Descriptor English: Sphingolipidoses
Descriptor Spanish: Esfingolipidosis
Descriptor esfingolipidosis
Scope note: 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)
Descriptor Portuguese: Esfingolipidoses
Descriptor French: Sphingolipidoses
Entry term(s): Maladies de surcharge en sphingolipides
Tree number(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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D013106
Scope note: 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.
Annotation: general or unspecified; prefer specifics
Allowable Qualifiers: BL sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
DeCS ID: 30418
Unique ID: D013106
NLM Classification: WD 205.5.L5
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1974/01/01
Date of Entry: 1999/01/01
Revision Date: 2006/07/05
Sphingolipidoses - Preferred
Concept UI M0020298
Preferred term Sphingolipidoses
Entry term(s) Maladies de surcharge en sphingolipides



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