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Sphingolipidoses MeSH Descriptor Data 2023


MeSH Heading
Sphingolipidoses
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
Unique ID
D013106
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D013106
Annotation
general or unspecified; prefer specifics
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.
Entry Term(s)
Sphingolipid Storage Diseases
Sphingolipidosis
NLM Classification #
QU 265.5.L5
Public MeSH Note
1992; see SPHINGOLIPIDOSIS 1974-91
History Note
1992(1974)
Date Established
1974/01/01
Date of Entry
1999/01/01
Revision Date
2021/07/01
Sphingolipidoses Preferred
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