Juvenile Sandhoff disease

Preferred Label : Juvenile Sandhoff disease;

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

Details

Origin ID

847224547;

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

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