Generalized Epilepsy with Febrile Seizures Plus

Preferred Label : Generalized Epilepsy with Febrile Seizures Plus;

NCIt synonyms : GEFS ;

NCIt definition : A rare, genetically heterogeneous disorder caused by mutations in the SCN1A, GABRG2, GABRD, SCN9A, or STX1B genes. It is characterized by early childhood onset febrile seizures, generalized tonic-clonic seizures, absence seizures, myoclonic seizures, and atonic seizures;

Details

Origin ID

C122811;

UMLS CUI

C3502809;

Automatic exact mappings (from CISMeF team)
- Epilepsy, generalized, with febrile seizures plus [OMIM phenotypic series]
- Slc2a4 regulator [OMIM gene]
- guanyl-nucleotide exchange factor activity [GO term]
Currated CISMeF NLP mapping
- Generalised epilepsy with febrile seizures plus [ICD-11 More detail]
- Generalized epilepsy with febrile seizures plus (disorder) [SNOMED CT concept]
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]
- generalized epilepsy with febrile seizures plus [MeSH Supplementary Concept]
- generalized epilepsy with febrile seizures plus [DO Concept]
- generalized epilepsy with febrile seizures plus [MeSH concept]
- generalized epilepsy with febrile seizures plus [Disease (Nov.)]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized epilepsy with febrile seizures plus (disorder) [SNOMED CT concept]
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]
- generalized epilepsy with febrile seizures plus [DO Concept]
- generalized epilepsy with febrile seizures plus [MeSH Supplementary Concept]
- generalized epilepsy with febrile seizures plus [MeSH concept]
- generalized epilepsy with febrile seizures plus [Disease (Nov.)]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

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