gangliosidoses, GM2

Preferred Label : gangliosidoses, GM2;

MeSH definition : A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.;

MeSH synonym : gm2 gangliosidose; gangliosidose, gm2; gm2, gangliosidoses; g(m2) gangliosidoses; gm2 gangliosidosis; gm2 gangliosidoses; gangliosidosis, gm2; Gangliosidoses GM2;

Wikipedia link : https://en.wikipedia.org/wiki/Gangliosidoses gm2;

Details

Origin ID

D020143;

UMLS CUI

C0268274;

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
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [DO Concept]
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis [ICD-11 More detail]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
- GM2 gangliosidosis [ORDO Disease]
- GM2 gangliosidosis (disorder) [SNOMED CT concept]
DO Cross reference
- GM2 gangliosidosis [DO Concept]
Record concept(s)
- gangliosidoses, GM2 [MeSH concept]
See also
- beta-n-acetylhexosaminidases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM2 Gangliosidosis [NCIt concept]
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [ORDO Disease]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
- GM2 gangliosidosis [DO Concept]
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis [ICD-11 More detail]
- GM2 gangliosidosis [MedDRA Preferred Term]
- GM2 gangliosidosis (disorder) [SNOMED CT concept]
- gm2 gangliosidosis, nos [SNOMED Notion]

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