Lactosylceramide alpha-2,3-sialyltransferase deficiency

Preferred Label : Lactosylceramide alpha-2,3-sialyltransferase deficiency;

ICD-11 definition : This refers to deficiency enzyme belongs to the family of transferases, specifically those glycosyltransferases that do not transfer hexosyl or pentosyl groups.;

ICD-11 synonym : Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness; GM3 synthase deficiency; Amish infantile epilepsy;

Details

Origin ID

2006187313;

Automatic exact mappings (from CISMeF team)
- Amish infantile epilepsy syndrome [ORDO Disease]
- GM3 synthase deficiency [ORDO Disease]
- Ganglioside GM3 synthase deficiency (disorder) [SNOMED CT concept]
- Salt and pepper developmental regression syndrome [OMIM Phenotype]
- amish infantile epilepsy syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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