gangliosidoses

Preferred Label : gangliosidoses;

MeSH definition : A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.;

MeSH synonym : gangliosidosis; ganglioside storage disorders; storage disorders, ganglioside; ganglioside storage disorder; storage disorder, ganglioside; ganglioside storage diseases; ganglioside storage disease; storage disease, ganglioside; storage diseases, ganglioside;

MeSH annotation : coordinate IM with specific ganglioside (IM) but GANGLIOSIDOSIS, GM1 and GANGLIOSIDOSES, GM2 are available;

Wikipedia link : https://en.wikipedia.org/wiki/Gangliosidosis;

Details

Origin ID

D005733;

UMLS CUI

C0017083;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Gangliosidosis [PASCAL descriptor]
- Gangliosidosis [ICD-11 Sub-sub category]
- Gangliosidosis [ORDO Disease]
- Gangliosidosis (disorder) [SNOMED CT concept]
- Other and unspecified gangliosidosis [ICD-10 Sub-category]
- Other gangliosidosis [ICD-10 Sub-category (who)]
- gangliosidosis [DO Concept]
- gangliosidosis [Disease (Nov.)]
- gangliosidosis, nos [SNOMED Notion]
DO Cross reference
- gangliosidosis [DO Concept]
Record concept(s)
- gangliosidoses [MeSH concept]
See also
- galactosidases [MeSH Descriptor]
- hexosaminidases [MeSH Descriptor]
- mucolipidoses [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gangliosidosis [ORDO Disease]
- Gangliosidosis [PASCAL descriptor]
- Gangliosidosis [ICD-11 Sub-sub category]
- Gangliosidosis (disorder) [SNOMED CT concept]
- Unspecified Gangliosidosis [NCIt concept]
- gangliosidosis [DO Concept]
- gangliosidosis [Disease (Nov.)]
- gangliosidosis, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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