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NIEMANN-PICK DISEASE
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DeCS
Descriptor
English
:
Niemann-Pick Diseases
Descriptor
Spanish
:
Enfermedades de Niemann-Pick
Descriptor
Portuguese
:
Doenças de Niemann-Pick
Synonyms
English
:
Niemann Pick Disease
Niemann Pick Diseases
Niemann-Pick Disease
Tree Number:
C10.228.140.163.100.435.825.700
C15.604.250.410.625
C16.320.565.189.435.825.700
C16.320.565.398.641.803.730
C16.320.565.595.554.825.700
C18.452.132.100.435.825.700
C18.452.584.687.803.730
C18.452.648.189.435.825.700
C18.452.648.398.641.803.730
C18.452.648.595.554.825.700
Definition
English
:
A group of autosomal recessive disorders in which harmful quantities of
lipids
accumulate in the
viscera
and the
central nervous system
. They can be caused by deficiencies of enzyme activities (
SPHINGOMYELIN PHOSPHODIESTERASE
) or defects in intracellular transport, resulting in the accumulation of
SPHINGOMYELINS
and
CHOLESTEROL
. There are various subtypes based on their clinical and genetic differences.
Indexing Annotation
English
:
note specific types are available
See Related
English
:
Sea-Blue Histiocyte Syndrome
Sphingomyelin Phosphodiesterase
History Note
English
:
2000(1966)
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:
28196
Unique Identifier:
D009542
Occurrence in VHL
:
Similar:
DeCS