B variant of hexosaminidase A deficiency, juvenile form

Preferred Label : B variant of hexosaminidase A deficiency, juvenile form;

ICD-11 synonym : GM sub 2 /sub gangliosidosis, type 3; Juvenile subacute Tay-Sachs disease; GM2 gangliosidosis type 3; GM 2 gangliosidosis, type 3;

Details

Origin ID

390870454;

UMLS CUI

C0342810;

Automatic exact mappings (from CISMeF team)
- Protein phosphatase 1, regulatory subunit 3a [OMIM gene]
CISMeF manual mappings
- B variant hexosaminidase A deficiency - juvenile (disorder) [SNOMED CT concept]
False automatic mappings
- Glucose/galactose malabsorption [OMIM Phenotype]
- Gram [NCIt concept]
- The Gambia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B variant hexosaminidase A deficiency - juvenile (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Juvenile GM2 gangliosidosis (disorder) [SNOMED CT concept]

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