B1 variant of hexosaminidase A deficiency

Preferred Label : B1 variant of hexosaminidase A deficiency;

ICD-11 synonym : Late infantile Tay-Sachs disease; Pseudo-AB variant of hexosaminidase deficiency;

Details

Origin ID

1223524026;

Currated CISMeF NLP mapping
- B1 variant hexosaminidase A deficiency (disorder) [SNOMED CT concept]
- Tay-Sachs disease, B1 variant [ORDO Disease]
- Tay-Sachs disease, variant B1 [MeSH Supplementary Concept]
- Tay-Sachs disease, variant B1 [MeSH concept]

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