Terminology Service for NFDI4Health
craniosynostosis
Go to external page
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. [ ]
Term info
Label
craniosynostosis
Synonyms
- craniosynostosis syndrome
- premature closure of cranial sutures
Subsets
disease_grouping, ordo_group_of_disorders
closeMatch
http://identifiers.org/meddra/10048907, http://identifiers.org/meddra/10049889
exactMatch
http://purl.obolibrary.org/obo/Orphanet_1531, http://identifiers.org/mesh/D003398, 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, https://icd.codes/icd10cm/Q75.0
id
MONDO:0015469