Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation

Preferred Label : Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation;

NCIt synonyms : Aphasia, Acquired, with Epilepsy; FESD with or without Mental Retardation;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the GRIN2A gene, encoding glutamate receptor ionotropic NMDA 2A. It is characterized by childhood-onset seizures affecting the temporal lobe or rolandic area of the brain, with a variable phenotype. It often affects speech and language.;

Details

Origin ID

C168598;

UMLS CUI

C0282512;

Currated CISMeF NLP mapping
- Acquired epileptic aphasia (disorder) [SNOMED CT concept]
- Epilepsy, focal, with speech disorder and with or without impaired intellectual development [OMIM Phenotype]
- landau-kleffner syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acquired epileptic aphasia [MedDRA Preferred Term]
- Acquired epileptic aphasia (disorder) [SNOMED CT concept]
- Epilepsy, focal, with speech disorder and with or without impaired intellectual development [OMIM Phenotype]
- Landau-Kleffner syndrome [MeSH concept]
- Landau-Kleffner syndrome [MedDRA LLT]
- Landau-Kleffner syndrome [DO Concept]
- Landau-Kleffner syndrome [ORDO Disease]
- landau-kleffner syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GRIN2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients