Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay. [ MESH:D054220 ]
Synonyms: brain cortical dysplasia cortical dysplasia
Term information
- MESH:D054220 (MONDO:equivalentTo)
- icd11.foundation:1352548261 (https://orcid.org/0000-0002-4142-7153)
- SCTID:253153000 (MONDO:equivalentTo)
- NCIT:C42088 (MONDO:equivalentTo)
- Orphanet:268950 (MONDO:equivalentTo)
- UMLS:C0431380 (MONDO:equivalentTo)
- GARD:20982 (MONDO:GARD)
- MEDGEN:98129 (MONDO:equivalentTo)
gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_268950
http://linkedlifedata.com/resource/umls/id/C0431380
http://identifiers.org/mesh/D054220
http://identifiers.org/medgen/98129
http://identifiers.org/snomedct/253153000
http://purl.obolibrary.org/obo/NCIT_C42088