Developmental and Epileptic Encephalopathy 6A

Preferred Label : Developmental and Epileptic Encephalopathy 6A;

NCIt synonyms : EIEE6; Dravet Syndrome; Early Infantile Epileptic Encephalopathy 6; DEE6;

NCIt definition : An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha.;

NCI Metathesaurus CUI : CL544991;

Details

Origin ID

C147071;

UMLS CUI

C0751122;

Automatic exact mappings (from CISMeF team)
- epilepsies, myoclonic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Dravet syndrome [OMIM Phenotype]
- Dravet syndrome [PASCAL descriptor]
- Dravet syndrome [MedDRA LLT]
- Dravet syndrome [DO Concept]
- Dravet syndrome [DO Concept]
- Dravet syndrome [ICD-11 Sub-sub category]
- Severe myoclonic epilepsy in infancy (disorder) [SNOMED CT concept]
- Severe myoclonic epilepsy of infancy [MedDRA Preferred Term]
- epilepsy, myoclonic, infantile, severe [MeSH concept]
- severe myoclonic epilepsy of infancy [Disease (Nov.)]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Dravet syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dravet syndrome [OMIM Phenotype]
- Dravet syndrome [MedDRA LLT]
- Severe myoclonic epilepsy in infancy (disorder) [SNOMED CT concept]
- Severe myoclonic epilepsy of infancy [MedDRA Preferred Term]
- epilepsy, myoclonic, infantile, severe [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- SCN1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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