Hexosaminidase activator deficiency

Preferred Label : Hexosaminidase activator deficiency;

ICD-11 synonym : AB variant of hexosaminidase deficiency; GM2 activator deficiency;

Origin ID

649693659;

UMLS CUI

C0268275;

Currated CISMeF NLP mapping
- 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]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
- tay-sachs disease, variant ab [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
- tay-sachs disease, variant ab [SNOMED Notion]