B variant of hexosaminidase A deficiency, infantile form

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

ICD-11 synonym : GM sub 2 /sub gangliosidosis, type 1; Classic infantile acute Tay-Sachs disease; GM2 gangliosidosis type 1; GM 2 gangliosidosis, type 1;

Details

Origin ID

519504561;

UMLS CUI

C0342809;

Automatic exact mappings (from CISMeF team)
- Protein phosphatase 1, regulatory subunit 3a [OMIM gene]
CISMeF manual mappings
- B variant hexosaminidase A deficiency - infantile (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Tay-Sachs disease, B variant, infantile form [ORDO Disease]
False automatic mappings
- Glucose/galactose malabsorption [OMIM Phenotype]
- The Gambia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B variant hexosaminidase A deficiency - infantile (disorder) [SNOMED CT concept]
- Tay-Sachs disease, B variant, infantile form [ORDO Disease]
Validated automatic mappings to NTBT
- Gram [NCIt concept]
- Tay-Sachs disease [DO Concept]
- Tay-Sachs disease (disorder) [SNOMED CT concept]
- tay-sachs disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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