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Descriptor English: Sphingolipidoses
Descriptor Spanish: Esfingolipidosis
Descriptor Portuguese: Esfingolipidoses
Descriptor French: Sphingolipidoses
Entry term(s): Sphingolipid Storage Disease
Sphingolipid Storage Diseases
Sphingolipidosis
Storage Disease, Sphingolipid
Storage Diseases, Sphingolipid
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
C18.452.584.687.803
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 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
Public MeSH Note: 1992; see SPHINGOLIPIDOSIS 1974-91
History Note: 1992(1974)
DeCS ID: 30418
Unique ID: D013106
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
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.
Preferred term Sphingolipidoses
Entry term(s) Sphingolipid Storage Disease
Sphingolipid Storage Diseases
Sphingolipidosis
Storage Disease, Sphingolipid
Storage Diseases, Sphingolipid



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