GM2 gangliosidosis

Preferred Label : GM2 gangliosidosis;

ICD-11 definition : Any condition caused by deficient catabolism of the GM2 ganglioside substrate due to genetic mutation. These conditions are characterized by progressive neurodegeneration and developmental delay.;

ICD-11 synonym : deficiency of beta-n-acetylhexosaminidase isoenzymes; GM sub 2 /sub gangliosidosis;

ICD-11 inclusion : severe hexosaminidase a deficiency; GM 2 gangliosidosis NOS;

Details

Origin ID

1513691830;

UMLS CUI

C0268274;

Automatic exact mappings (from CISMeF team)
- GM2 gangliosidosis [MedDRA Preferred Term]
- Protein phosphatase 1, regulatory subunit 3a [OMIM gene]
- hexosaminidase subunit alpha [HGNC gene]
Currated CISMeF NLP mapping
- GM2 gangliosidosis [ORDO Disease]
- GM2 gangliosidosis [DO Concept]
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
- GM2 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidoses, GM2 [MeSH Descriptor]
- gangliosidoses, GM2 [MeSH concept]
False automatic mappings
- Glucose/galactose malabsorption [OMIM Phenotype]
- Gram [NCIt concept]
- The Gambia [NCIt concept]
See also inter- (CISMeF)
- hexosaminidase subunit alpha [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM2 Gangliosidosis [NCIt concept]
- GM2 gangliosidosis [DO Concept]
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis [ORDO Disease]
- GM2 gangliosidosis [MedDRA Preferred Term]
- GM2 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidoses, GM2 [MeSH Descriptor]
- gangliosidoses, GM2 [MeSH concept]
- gm2 gangliosidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Sandhoff Disease [NCIt concept]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease [OMIM Phenotype]
- sandhoff disease [SNOMED Notion]
- sandhoff disease [MeSH concept]
- sandhoff disease [MeSH Descriptor]
- total hexosaminidase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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