Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

craniosynostosis

Synonyms

craniosynostosis syndrome

CSO

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

http://identifiers.org/snomedct/205411004

http://identifiers.org/snomedct/205414007

database_cross_reference

MESH:D003398

Orphanet:1531

MedDRA:10049889

ICD10:Q75.0

UMLS:C0010278

OMIMPS:123100

MedDRA:10048907

GARD:0006209

DOID:2340

NCIT:C84655

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/Orphanet_1531

http://identifiers.org/mesh/D003398

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

http://linkedlifedata.com/resource/umls/id/C0010278

http://purl.obolibrary.org/obo/NCIT_C84655

http://identifiers.org/meddra/10048907

http://identifiers.org/meddra/10049889

has_exact_synonym

craniosynostosis syndrome

premature closure of cranial sutures

has_related_synonym

CSO

id

MONDO:0015469

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

craniosynostosis

notation

MONDO:0015469

prefLabel

craniosynostosis

treeView

http://purl.obolibrary.org/obo/MONDO_0018454

http://purl.obolibrary.org/obo/MONDO_0001411

http://purl.obolibrary.org/obo/MONDO_0020018

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018454

http://purl.obolibrary.org/obo/MONDO_0001411

http://purl.obolibrary.org/obo/MONDO_0020018

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Delete Mapping To Ontology Source
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.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
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_1531 EFO LOOM