JSON

craniosynostosis

^ http://purl.obolibrary.org/obo/MONDO_0015469

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. [ Orphanet:1531 ]

Term info

database cross reference
  • UMLS:C0010278 (Orphanet:1531/e)
  • OMIMPS:123100 (MONDO:equivalentTo)
  • ICD10CM:Q75.0 (Orphanet:1531/specific)
  • GARD:0006209 (MONDO:equivalentTo)
  • MESH:D003398 (Orphanet:1531/e)
  • DOID:2340 (MONDO:equivalentTo)
  • NCIT:C84655 (MONDO:equivalentTo)
  • MedDRA:10048907 (Orphanet:1531/e)
  • MedDRA:10049889 (Orphanet:1531/e)
  • Orphanet:1531 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
CSO [ GARD:0006209 ]

closeMatch

http://identifiers.org/meddra/10048907, http://identifiers.org/meddra/10049889

definition

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1531, http://identifiers.org/mesh/D003398, http://purl.bioontology.org/ontology/ICD10CM/Q75.0, https://omim.org/phenotypicSeries/PS123100, http://purl.obolibrary.org/obo/NCIT_C84655, http://purl.obolibrary.org/obo/DOID_2340, http://linkedlifedata.com/resource/umls/id/C0010278

has exact synonym

premature closure of cranial sutures, craniosynostosis syndrome

id

MONDO:0015469