Niemann-Pick Disease, Type A [Niemannova-Pickova nemoc typu A]
- Terms
-
deficit sfingomyelinázy
nedostatek sfingomyelinázy
Niemann-Pickova nemoc typu A
sfingomyelinasa - nedostatek
sfingomyelinová lipidóza
sfingomyelinóza
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Classical Niemann-Pick Disease
Neuronal Cholesterol Lipidosis
Niemann-Pick Disease, Acute Neuronopathic Form
Niemann-Pick Disease, Acute Neurovisceral Form
Niemann-Pick Disease, Neuronopathic Type
Niemann-Pick's Disease Type A
Ophthalmoplegia, Supraoptic Vertical
Sphingomyelin Cholesterol Lipidosis
Sphingomyelin Lipidosis
Sphingomyelinase Deficiency
Sphingomyelinase Deficiency Disease
Type A Niemann-Pick Disease
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
- DUI
- D052536 MeSH Browser
- CUI
- M0335783
- Previous indexing
- Niemann-Pick Diseases (1997-2006)
- History note
- 2007; use NIEMANN-PICK DISEASES 2000-2006
- Public note
- 2007; see NIEMANN-PICK DISEASES 2000-2006
Allowable subheadings
- BL
- blood 1
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 1
- CO
- complications
- DI
- diagnosis 1
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology 2
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 4
- HI
- history
- IM
- immunology
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 1
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology