Infantile Sandhoff disease

Preferred Label : Infantile Sandhoff disease;

ICD-11 synonym : infantile GM2 gangliosidosis; Total hexosaminidase deficiency, infantile form; infantile GM sub 2 /sub gangliosidosis; infantile GM 2 gangliosidosis;

Details

Origin ID

596061472;

Currated CISMeF NLP mapping
- Infantile GM2 gangliosidosis (disorder) [SNOMED CT concept]
- Sandhoff disease, infantile form [ORDO Disease]
- Total hexosaminidase deficiency - infantile (disorder) [SNOMED CT concept]
- infantile gm2 gangliosidosis [SNOMED Notion]
- infantile sandhoff disease [MeSH concept]
- sandhoff disease, infantile type [MeSH concept]
Validated automatic mappings to NTBT
- Sandhoff disease [OMIM Phenotype]
- sandhoff disease [MeSH Descriptor]

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