hexosaminidase alpha-Subunit deficiency (Variant B)

Preferred Label : hexosaminidase alpha-Subunit deficiency (Variant B);

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0536544;

UMLS CUI

C1848922;

Related record
- tay-sachs disease [MeSH Descriptor]
See also inter- (CISMeF)
- Tay Sachs disease [Disease (Nov.)]
- Tay-Sachs Disease [NCIt concept]
- Tay-Sachs disease [Radlex concept]
- Tay-Sachs disease [PASCAL descriptor]
- Tay-Sachs disease [ORDO Disease]
- Tay-Sachs disease (disorder) [SNOMED CT concept]
- Tay-sachs disease [OMIM Phenotype]
- tay-sachs disease [MedDRA Preferred Term]
- tay-sachs disease [MedlinePlus Topic]
- tay-sachs disease [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [ICD-10 Sub-category (who)]