tay-sachs disease, variant ab

Preferred Label : tay-sachs disease, variant ab;

Details

Origin ID

D6-76134;

UMLS CUI

C0268275;

Automatic exact mappings (from CISMeF team)
- Tay-Sachs disease, Pseudo-AB variant [MeSH concept]
- Tay-Sachs disease, Pseudo-AB variant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- GM2 gangliosidosis AB variant [Disease (Nov.)]
- GM2 gangliosidosis, AB variant [DO Concept]
- GM2 gangliosidosis, AB variant [ORDO Disease]
- GM2-Gangliosidosis, AB Variant [NCIt concept]
- Gm2-gangliosidosis, ab variant [OMIM Phenotype]
- Hexosaminidase activator deficiency [ICD-11 More detail]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- GM2 gangliosidosis [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- beta-n-acetylhexosaminidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM2 gangliosidosis AB variant [Disease (Nov.)]
- GM2 gangliosidosis, AB variant [ORDO Disease]
- GM2 gangliosidosis, AB variant [DO Concept]
- GM2-Gangliosidosis, AB Variant [NCIt concept]
- Gm2-gangliosidosis, ab variant [OMIM Phenotype]
- Hexosaminidase activator deficiency [ICD-11 More detail]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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