amish infantile epilepsy syndrome

Preferred Label : amish infantile epilepsy syndrome;

MeSH note : mutation in GM3 synthetase;

MeSH synonym : GM3 synthase deficiency; epilepsy syndrome, Infantile-Onset symptomatic;

Details

Origin ID

C563799;

UMLS CUI

C1836824;

Automatic exact mappings (from CISMeF team)
- GM3 synthase deficiency [ORDO Disease]
- Ganglioside GM3 synthase deficiency (disorder) [SNOMED CT concept]
- Lactosylceramide alpha-2,3-sialyltransferase deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Amish infantile epilepsy syndrome [ORDO Disease]
- Salt and pepper developmental regression syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- epilepsy [MeSH Descriptor]
- sialyltransferases [MeSH Descriptor]
Record concept(s)
- amish infantile epilepsy syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amish infantile epilepsy syndrome [ORDO Disease]
- Ganglioside GM3 synthase deficiency (disorder) [SNOMED CT concept]
- Salt and pepper developmental regression syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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