Cortical Dysplasia-Focal Epilepsy Syndrome

Preferred Label : Cortical Dysplasia-Focal Epilepsy Syndrome;

NCIt synonyms : CDFE Syndrome;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.;

Details

Origin ID

C133743;

UMLS CUI

C4552043;

Automatic exact mappings (from CISMeF team)
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH concept]
Currated CISMeF NLP mapping
- CNTNAP2-related developmental and epileptic encephalopathy [ORDO Disease]
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH Supplementary Concept]
- Cortical dysplasia with focal epilepsy syndrome (disorder) [SNOMED CT concept]
- Pitt-hopkins-like syndrome 1 [OMIM Phenotype]
- cortical dysplasia-focal epilepsy syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH Supplementary Concept]
- Cortical dysplasia with focal epilepsy syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CNTNAP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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