Orphanet Rare Disease Ontology

Last uploaded: December 4, 2019
Preferred Name

Craniosynostosis

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://www.orpha.net/ORDO/Orphanet_1531

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.

definition_citation

orphanet

hasDbXref

ICD-10:Q75.0

MedDRA:10049889

UMLS:C0010278

MedDRA:10048907

MeSH:D003398

label

Craniosynostosis

notation

ORPHA:1531

prefLabel

Craniosynostosis

subClassOf

http://www.orpha.net/ORDO/Orphanet_183542

http://www.orpha.net/ORDO/Orphanet_98038

http://www.orpha.net/ORDO/Orphanet_377794

http://www.orpha.net/ORDO/Orphanet_364559

http://www.orpha.net/ORDO/Orphanet_404568

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http://purl.bioontology.org/ontology/ICPC2P/N85006 ICPC2P LOOM
http://www.limics.org/hrdo/rdfns#pat_id_792 HRDO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0084 IFAR LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Craniosynostosis CSEO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2340 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84655 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84655 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84655 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 MONDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.0 ICD10 LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010278 OCHV LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010278 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002205 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_2340 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2340 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2340 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2340 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2340 NIFSTD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10049889 MEDDRA LOOM
http://purl.obolibrary.org/obo/HP_0001363 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0001363 NIFSTD LOOM
http://purl.obolibrary.org/obo/HP_0001363 HP LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Craniosynostosis RPO LOOM
http://purl.bioontology.org/ontology/RCD/XE1Lz RCD LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03.00 RCTV2 LOOM
http://www.gamuts.net/entity#craniosynostosis GAMUTS LOOM
http://purl.org/obo/owl/HP#HP_0001363 BDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.0 ICD10CM LOOM
http://radlex.org/RID/RID34603 RADLEX LOOM
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
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http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_1531 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_1531 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO SAME_URI