Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

craniosynostosis
Synonyms

CSO

premature closure of cranial sutures

craniosynostosis syndrome

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

http://identifiers.org/meddra/10049889

http://identifiers.org/meddra/10048907

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.

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

https://omim.org/phenotypicSeries/PS123100

http://purl.obolibrary.org/obo/DOID_2340

has_exact_synonym

premature closure of cranial sutures

craniosynostosis syndrome

has_related_synonym

CSO

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6877

id

MONDO:0015469

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

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://purl.obolibrary.org/obo/MONDO_0018234

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0015469 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 KTAO LOOM
rgo:06368 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Craniosynostosis CSEO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002205 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.0 ICD10 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10049889 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0084 IFAR LOOM
http://www.radlex.org/RID/RID34603 RADLEX LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010278 MEDLINEPLUS LOOM
http://nanbyodata.jp/ontology/NANDO_2100227 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84655 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84655 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/RCD/XE1Lz RCD LOOM
http://purl.obolibrary.org/obo/HP_0001363 HP LOOM
http://purl.obolibrary.org/obo/HP_0001363 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00002373 PMAPP-PMO LOOM
http://radlex.org/RID/RID34603 RADLEX LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2340 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_792 HRDO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Craniosynostosis RPO LOOM
http://purl.bioontology.org/ontology/ICPC2P/N85006 ICPC2P LOOM
http://purl.org/obo/owl/HP#HP_0001363 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010278 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2340 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2340 DTO 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 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2340 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2340 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2340 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2340 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP LOOM
http://www.orpha.net/ORDO/Orphanet_1531 ORDO LOOM