Preferred Name | craniosynostosis | |
Synonyms |
CSO craniosynostosis syndrome premature closure of cranial sutures |
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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 |
Orphanet:1531 MedDRA:10048907 GARD:6209 OMIMPS:123100 MESH:D003398 ICD10CM:Q75.0 NCIT:C84655 UMLS:C0010278 MedDRA:10049889 DOID:2340 icd11.foundation:458033798 |
|
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://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 |
craniosynostosis syndrome premature closure of cranial sutures |
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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#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
label |
craniosynostosis |
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notation |
MONDO:0015469 |
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prefLabel |
craniosynostosis |
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treeView | ||
subClassOf |