Terminology Service for NFDI4Health

isolated focal cortical dysplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0019009


Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. [ ]

Term info

Label

isolated focal cortical dysplasia

Synonyms
  • epilepsy due to FCD
database cross reference
Subsets

ordo_disease

exactMatch

http://purl.obolibrary.org/obo/Orphanet_65683, http://identifiers.org/snomedct/766710005

id

MONDO:0019009

narrowMatch

https://icd.codes/icd10cm/Q04.8