loading...| Preferred Name | craniosynostosis | |
| Synonyms |
CSO craniosynostosis syndrome premature closure of cranial sutures |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015469 |
|
| closeMatch | ||
| database_cross_reference |
ICD10:Q75.0 GARD:0006209 Orphanet:1531 MedDRA:10048907 OMIMPS:123100 MESH:D003398 NCIT:C84655 UMLS:C0010278 MedDRA:10049889 DOID:2340 |
|
| exactMatch |
http://identifiers.org/meddra/10049889 http://linkedlifedata.com/resource/umls/id/C0010278 http://purl.obolibrary.org/obo/NCIT_C84655 http://identifiers.org/meddra/10048907 http://identifiers.org/mesh/D003398 |
|
| has exact synonym |
craniosynostosis syndrome premature closure of cranial sutures |
|
| has related synonym |
CSO |
|
| id |
MONDO:0015469 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
craniosynostosis |
|
| notation |
MONDO:0015469 |
|
| prefLabel |
craniosynostosis |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020018 |