Search on: SPHINGOLIPIDOSES 
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Descriptor English:   Sphingolipidoses 
Descriptor Spanish:   Esfingolipidosis 
Descriptor Portuguese:   Esfingolipidoses 
Synonyms English:   Sphingolipid Storage Disease
Sphingolipid Storage Diseases
Sphingolipidosis
Storage Disease, Sphingolipid
Storage Diseases, Sphingolipid  
Tree Number:   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
Definition English:   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. 
Indexing Annotation English:   general or unspecified; prefer specifics
History Note English:   1992(1974) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   30418 
Unique Identifier:   D013106 

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