Sphingolipidoses [sfingolipidózy]
topical
12
- Terms
-
Sphingolipid Storage Diseases
Sphingolipidosis
Persistent link
https://www.medvik.cz/link/D013106
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.
- Annotation
- general or unspecified; prefer specifics
- obecné, dej přednost přesnějšímu deskriptoru
- DUI
- D013106 MeSH Browser
- CUI
- M0020298
- History note
- 1992(1974)
- Public note
- 1992; see SPHINGOLIPIDOSIS 1974-91
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 2
- CO
- complications 2
- DI
- diagnosis 6
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 1
- GE
- genetics 4
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 1
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 0
- PP
- physiopathology 0
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 0
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0
...
Occurrences in Medvik records
C
Diseases