Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Craniofacial Dysostosis
Synonyms	Crouzon's Disease Dysostoses, Craniofacial
Definitions	Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
ID	http://purl.bioontology.org/ontology/MESH/D003394
altLabel	Crouzon's Disease Dysarthroses, Craniofacial Craniofacial Dysostosis Syndrome Dysarthrosis, Craniofacial Craniofacial Dysostosis Type 1 Craniofacial Dysostosis, Crouzon Dysostosis, Craniofacial Crouzon Syndrome Craniofacial Dysarthroses Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndromes Crouzons Disease Crouzon Disease Crouzon Craniofacial Dysostosis Craniofacial Dysostoses Dysostoses, Craniofacial
AN	"craniofacial dysmorphism" does not go here: index under FACIAL BONES / abnorm + SKULL / abnorm but not also ABNORMALITIES, MULTIPLE
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0010273 C2931196
DC	1
definition	Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
DX	19660101
FX	D051497
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D051497
Mapped from	http://purl.bioontology.org/ontology/MESH/C537664 http://purl.bioontology.org/ontology/MESH/C567382 http://purl.bioontology.org/ontology/MESH/C563599 http://purl.bioontology.org/ontology/MESH/C537154 http://purl.bioontology.org/ontology/MESH/C537736 http://purl.bioontology.org/ontology/MESH/C536699 http://purl.bioontology.org/ontology/MESH/C536570 http://purl.bioontology.org/ontology/MESH/C535483 http://purl.bioontology.org/ontology/MESH/C562974 http://purl.bioontology.org/ontology/MESH/C536550 http://purl.bioontology.org/ontology/MESH/C536449 http://purl.bioontology.org/ontology/MESH/C536892
MDA	19990101
MMR	20160119
MN	C05.660.207.231 C16.131.621.207.231 C05.116.099.370.231
notation	D003394
prefLabel	Craniofacial Dysostosis
TERMUI	T782668 T841220 T841219 T009882 T009881 T009880 T782666 T009879 T811308 T782667
TH	OMIM (2013) NLM (1966) NLM (2012) UNK (19XX) GHR (2014) NLM (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D004413

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D003394	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D003394	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10066946	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/PG04.	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/28861008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10066950	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C05	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10066946	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/0725-9662	CRISP	CUI
http://purl.bioontology.org/ontology/SCTSPA/28861008	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10066950	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10/Q75.1	ICD10	CUI
http://purl.bioontology.org/ontology/MDRFRE/10066946	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10066950	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000868	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/123500	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/176943	OMIM	CUI
http://purl.obolibrary.org/obo/HP_0004439	HP	LOOM
http://purl.obolibrary.org/obo/HP_0004439	EFO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.231	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3430	OCHV	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.1	ICD10CM	LOOM
http://purl.jp/bio/4/id/200906017778515764	IOBC	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066946	MEDDRA	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Craniofacial_dysostosis	RPO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.231	RH-MESH	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG04.00	RCTV2	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84653	NCIT	LOOM
http://purl.obolibrary.org/obo/HP_0004439	UPHENO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003394	RH-MESH	LOOM
http://purl.bioontology.org/ontology/CSP/0725-9662	CRISP	LOOM
http://purl.obolibrary.org/obo/NCIT_C84653	BERO	LOOM
http://purl.obolibrary.org/obo/OMIT_0004691	OMIT	LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.1	ICD10	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037615	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.231	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Craniofacial_Dysostosis	CSEO	LOOM