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SPHINGOLIPIDOSES
Descriptors Found:
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DeCS
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
Occurrence in VHL
:
Similar:
DeCS