GM2 Gangliosidosis

Preferred Label : GM2 Gangliosidosis;

NCIt related terms : GM2 gangliosidosis, unspecified;

NCIt definition : A group of rare autosomal recessively inherited progressive neurological disorders caused by GM2 ganglioside accumulation in lysosomes. Representative examples include Tay-Sachs and Sandhoff disease.;

Codes from synonyms : E75.00;

Details

Origin ID

C197908;

UMLS CUI

C0268274;

Currated CISMeF NLP mapping
- GM2 gangliosidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM2 gangliosidosis [MedDRA Preferred Term]
- GM2 gangliosidosis [ICD-11 More detail]
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [DO Concept]
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidoses, GM2 [MeSH Descriptor]
- gangliosidoses, GM2 [MeSH concept]
- gm2 gangliosidosis, nos [SNOMED Notion]
concept_is_in_subset
- mCode Elixhauser Other Neurological Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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