generalized epilepsy with febrile seizures plus, type 2

Preferred Label : generalized epilepsy with febrile seizures plus, type 2;

MeSH note : mutation in SCN1A;

MeSH synonym : GEFSP2; GEFS, type 2;

Détails

Origin ID

C565810;

UMLS CUI

C1858673;

Automatic exact mappings (from CISMeF team)
- generalized epilepsy with febrile seizures plus 2 [DO Concept]
- sodium voltage-gated channel alpha subunit 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Generalized epilepsy with febrile seizures plus, type 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- epilepsy, generalized [MeSH Descriptor]
- seizures, febrile [MeSH Descriptor]
Record concept(s)
- generalized epilepsy with febrile seizures plus, type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized epilepsy with febrile seizures plus, type 2 [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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