GM2 gangliosidosis

Preferred Label : GM2 gangliosidosis;

Diag associé à un acte (%) : 65.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E750;

UMLS CUI

C0268274;

Automatic exact mappings (from CISMeF team)
- GM2 gangliosidosis [MedDRA Preferred Term]
- Tay-Sachs Disease [NCIt concept]
- Tay-Sachs disease [MeSH concept]
- hexosaminidase subunit alpha [ORDO Gene]
- hexosaminidase subunit alpha [HGNC gene]
- tay-sachs disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- GM2 gangliosidosis [ORDO Disease]
- GM2 gangliosidosis [Disease (Nov.)]
- GM2 gangliosidosis [DO Concept]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
- GM2 gangliosidosis [ICD-11 More detail]
- GM2 gangliosidosis (disorder) [SNOMED CT concept]
- Sandhoff Disease [NCIt concept]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease [OMIM Phenotype]
- gangliosidoses, GM2 [MeSH concept]
- gangliosidoses, GM2 [MeSH Descriptor]
- sandhoff disease [MeSH concept]
- sandhoff disease [SNOMED Notion]
- sandhoff disease [MeSH Descriptor]
- total hexosaminidase deficiency [MeSH concept]
DO Cross reference
- GM2 gangliosidosis [DO Concept]
Excluded by
- Disorders of lipoprotein metabolism and other lipidemias [ICD-10 category]
Orphanet concepts
- GM2 gangliosidosis [ORDO Disease]
- GM2 gangliosidosis, AB variant [ORDO Disease]
- Gangliosidosis [ORDO Disease]
- Sandhoff disease [ORDO Disease]
- Sandhoff disease, adult form [ORDO Disease]
- Sandhoff disease, infantile form [ORDO Disease]
- Sandhoff disease, juvenile form [ORDO Disease]
- Sphingolipidosis [ORDO Disease]
- Tay-Sachs disease [ORDO Disease]
- Tay-Sachs disease, B variant, adult form [ORDO Disease]
- Tay-Sachs disease, B variant, infantile form [ORDO Disease]
- Tay-Sachs disease, B variant, juvenile form [ORDO Disease]
- Tay-Sachs disease, B1 variant [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM2 Gangliosidosis [NCIt concept]
- GM2 gangliosidosis [ORDO Disease]
- 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]
- gangliosidoses, GM2 [MeSH Descriptor]
- gangliosidoses, GM2 [MeSH concept]
- gm2 gangliosidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Sandhoff disease [Disease (Nov.)]
- hexosaminidase alpha-Subunit deficiency (Variant B) [MeSH concept]

Keyword's position in hierarchy(ies) :

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