JSON

schizencephaly

^ http://purl.obolibrary.org/obo/MONDO_0010011

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. [ Orphanet:799 ]

Term info

database cross reference
  • SCTID:253159001 (MONDO:equivalentTo)
  • MESH:D065707 (https://orcid.org/0000-0003-1967-3726)
  • NCIT:C99056 (MONDO:equivalentTo)
  • OMIM:269160 (Orphanet:799/e)
  • ICD9:742.4 (MONDO:relatedTo)
  • Orphanet:799 (OMIM:269160)
  • GARD:0000166 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_799, http://purl.obolibrary.org/obo/NCIT_C99056, http://identifiers.org/snomedct/253159001, http://identifiers.org/mesh/D065707, https://omim.org/entry/269160

has exact synonym

schizencephaly

id

MONDO:0010011