Cortical Dysplasia-Focal Epilepsy Syndrome

Preferred Label : Cortical Dysplasia-Focal Epilepsy Syndrome;

CISMeF synonym : Pitt-Hopkins-Like syndrome 1;

MeSH hyponym : PTHSL1;

Origin ID

C567657;

UMLS CUI

C4552043;

CISMeF manual mappings
- Pitt Hopkins-like syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- CNTNAP2-related developmental and epileptic encephalopathy [ORDO Disease]
- Cortical Dysplasia-Focal Epilepsy Syndrome [NCIt concept]
- Pitt-Hopkins-like syndrome [ORDO Disease]
- Pitt-hopkins-like syndrome 1 [OMIM Phenotype]
- cortical dysplasia-focal epilepsy syndrome [DO Concept]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- epilepsies, partial [MeSH Descriptor]
- malformations of cortical development [MeSH Descriptor]
Record concept(s)
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH concept]
- Pitt-Hopkins-Like Syndrome 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cortical Dysplasia-Focal Epilepsy Syndrome [NCIt concept]
- Cortical dysplasia with focal epilepsy syndrome (disorder) [SNOMED CT concept]
- Pitt-hopkins-like syndrome 1 [OMIM Phenotype]