Dravet Syndrome

Preferred Label : Dravet Syndrome;

NCIt synonyms : Severe Myoclonic Epilepsy of Infancy; SMEI;

NCIt definition : A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills.;

Details

Origin ID

C116573;

UMLS CUI

C0751122;

Automatic exact mappings (from CISMeF team)
- epilepsies, myoclonic [MeSH Descriptor]
- sodium voltage-gated channel alpha subunit 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Dravet syndrome [OMIM Phenotype]
- Dravet syndrome [ORDO Disease]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dravet syndrome [ORDO Disease]
- 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]
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- SCN1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients