Medical Subject Headings

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/MESH/D013106
http://purl.bioontology.org/ontology/MESH/D013106
Preferred Name

Sphingolipidoses
Definitions
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.
Synonyms
Storage Disease, Sphingolipid
Storage Diseases, Sphingolipid
Sphingolipid Storage Diseases
Sphingolipidosis
Sphingolipid Storage Disease
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

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.
altLabel
Storage Disease, Sphingolipid
Storage Diseases, Sphingolipid
Sphingolipid Storage Diseases
Sphingolipidosis
Sphingolipid Storage Disease
prefLabel
Sphingolipidoses
TH
NLM (2000)
NLM (1992)
NLM (1974)
notation
D013106
DX
19740101
Machine permutation
1992; see SPHINGOLIPIDOSIS 1974-91
MN
C16.320.565.595.554.825
C18.452.132.100.435.825
C18.452.648.189.435.825
C10.228.140.163.100.435.825
C18.452.648.595.554.825
C18.452.648.398.641.803
C18.452.584.563.641.803
C16.320.565.398.641.803
C16.320.565.189.435.825
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MMR
20210701
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
HN
1992(1974)
subClassOf
Semantic type UMLS property
DC
1
MDA
19990101
type
tui
T047
cui
C0037899
AN
general or unspecified; prefer specifics
Inverse of AQ
http://purl.bioontology.org/ontology/MESH/Q000097
http://purl.bioontology.org/ontology/MESH/Q000178
http://purl.bioontology.org/ontology/MESH/Q000175
http://purl.bioontology.org/ontology/MESH/Q000628
http://purl.bioontology.org/ontology/MESH/Q000276
http://purl.bioontology.org/ontology/MESH/Q000134
http://purl.bioontology.org/ontology/MESH/Q000139
http://purl.bioontology.org/ontology/MESH/Q000266
http://purl.bioontology.org/ontology/MESH/Q000378
http://purl.bioontology.org/ontology/MESH/Q000517
http://purl.bioontology.org/ontology/MESH/Q000662
http://purl.bioontology.org/ontology/MESH/Q000469
http://purl.bioontology.org/ontology/MESH/Q000150
http://purl.bioontology.org/ontology/MESH/Q000821
http://purl.bioontology.org/ontology/MESH/Q000191
http://purl.bioontology.org/ontology/MESH/Q000196
http://purl.bioontology.org/ontology/MESH/Q000473
http://purl.bioontology.org/ontology/MESH/Q000145
http://purl.bioontology.org/ontology/MESH/Q000382
http://purl.bioontology.org/ontology/MESH/Q000451
http://purl.bioontology.org/ontology/MESH/Q000453
http://purl.bioontology.org/ontology/MESH/Q000534
http://purl.bioontology.org/ontology/MESH/Q000532
http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/Q000188
http://purl.bioontology.org/ontology/MESH/Q000235
http://purl.bioontology.org/ontology/MESH/Q000201
http://purl.bioontology.org/ontology/MESH/Q000209
http://purl.bioontology.org/ontology/MESH/Q000208
http://purl.bioontology.org/ontology/MESH/Q000601
http://purl.bioontology.org/ontology/MESH/Q000000981
http://purl.bioontology.org/ontology/MESH/Q000652
http://purl.bioontology.org/ontology/MESH/Q000523
http://purl.bioontology.org/ontology/MESH/Q000401
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TERMUI
T370372
T038571
T038570
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