Medical Subject Headings

Last uploaded: November 5, 2019

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Preferred Name	Craniofacial Dysostosis
Synonyms	Dysostosis, Craniofacial
Definitions	Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
ID	http://purl.bioontology.org/ontology/MESH/D003394
altLabel	Dysostosis, Craniofacial Craniofacial Dysostosis, Type I Crouzon's Disease Craniofacial Dysostosis Type 1 Dysostoses, Craniofacial Craniofacial Dysostoses Craniofacial Dysarthroses Craniofacial Dysarthrosis Dysarthrosis, Craniofacial Crouzon Disease Craniofacial Dysostosis Syndromes Crouzon Syndrome Craniofacial Dysostosis, Crouzon Crouzons Disease Dysarthroses, Craniofacial Craniofacial Dysostosis Syndrome Crouzon Craniofacial Dysostosis
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	C2931196 C0010273
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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D051497
Inverse of SIB	http://purl.bioontology.org/ontology/MESH/D010985 http://purl.bioontology.org/ontology/MESH/D009958 http://purl.bioontology.org/ontology/MESH/D058165 http://purl.bioontology.org/ontology/MESH/D005489 http://purl.bioontology.org/ontology/MESH/D044542 http://purl.bioontology.org/ontology/MESH/D019767 http://purl.bioontology.org/ontology/MESH/D009634 http://purl.bioontology.org/ontology/MESH/D007714 http://purl.bioontology.org/ontology/MESH/D056685 http://purl.bioontology.org/ontology/MESH/D056731 http://purl.bioontology.org/ontology/MESH/D059041 http://purl.bioontology.org/ontology/MESH/D056730 http://purl.bioontology.org/ontology/MESH/D003398 http://purl.bioontology.org/ontology/MESH/D008831 http://purl.bioontology.org/ontology/MESH/D002973 http://purl.bioontology.org/ontology/MESH/D016142 http://purl.bioontology.org/ontology/MESH/D055947 http://purl.bioontology.org/ontology/MESH/D013580 http://purl.bioontology.org/ontology/MESH/D058627 http://purl.bioontology.org/ontology/MESH/D012415
Mapped from	http://purl.bioontology.org/ontology/MESH/C536699 http://purl.bioontology.org/ontology/MESH/C537664 http://purl.bioontology.org/ontology/MESH/C536449 http://purl.bioontology.org/ontology/MESH/C567382 http://purl.bioontology.org/ontology/MESH/C563599 http://purl.bioontology.org/ontology/MESH/C562974 http://purl.bioontology.org/ontology/MESH/C536570 http://purl.bioontology.org/ontology/MESH/C535483 http://purl.bioontology.org/ontology/MESH/C537154 http://purl.bioontology.org/ontology/MESH/C537736 http://purl.bioontology.org/ontology/MESH/C536550 http://purl.bioontology.org/ontology/MESH/C536892
MDA	19990101
MMR	20160119
MN	C05.660.207.231 C05.116.099.370.231 C16.131.621.207.231
notation	D003394
prefLabel	Craniofacial Dysostosis
TERMUI	T841219 T782667 T009880 T841220 T782666 T782668 T009879 T811308 T009881 T009882
TH	UNK (19XX) NLM (1966) NLM (2014) NLM (2012) ORD (2010) OMIM (2013) GHR (2014)
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/ICD10CM/Q75.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.1	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.obolibrary.org/obo/HP_0004439	Human Phenotype Ontology	LOOM
http://purl.bioontology.org/ontology/OMIM/176943	Online Mendelian Inheritance in Man	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84653	National Cancer Institute Thesaurus	LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q75.1	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/OMIM/123500	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/ICD10/Q75.1	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10/Q75.1	International Classification of Diseases, Version 10	LOOM