Preferred Name | craniosynostosis | |
Synonyms |
CSO premature closure of cranial sutures craniosynostosis syndrome |
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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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0015469 |
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closeMatch | ||
database_cross_reference |
OMIMPS:123100 icd11.foundation:458033798 MedDRA:10049889 MedDRA:10048907 ICD10CM:Q75.0 MESH:D003398 MEDGEN:1163 NCIT:C84655 UMLS:C0010278 Orphanet:1531 NANDO:2100227 DOID:2340 GARD:6209 |
|
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. |
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exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/458033798 http://identifiers.org/medgen/1163 http://linkedlifedata.com/resource/umls/id/C0010278 http://purl.obolibrary.org/obo/NCIT_C84655 http://purl.obolibrary.org/obo/Orphanet_1531 http://purl.bioontology.org/ontology/ICD10CM/Q75.0 http://identifiers.org/mesh/D003398 |
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has_exact_synonym |
premature closure of cranial sutures craniosynostosis syndrome |
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has_related_synonym |
CSO |
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IAO_0000233 | ||
id |
MONDO:0015469 |
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
label |
craniosynostosis |
|
notation |
MONDO:0015469 |
|
preferred label |
craniosynostosis |
|
prefLabel |
craniosynostosis |
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subClassOf |