Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Congenital pulmonary valve stenosis
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_3460
ageOfOnset	Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter
id_MedDRA	10037451
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Pulmonary+valve+stenosis%5Bti%5D+OR+Pulmonic+stenosis%5Bti%5D+OR+%28valve%5Bti%5D+Pulmonary+valve+stenosis%5Bmh%3Anoexp%5D%29%29+humans
id_MeSH	D011666
id_MIM	265500
id_OMS	Q22.1
id_Orpha	3189
id_SNOMEDCT	67278007
id_UMLS	C0162164
inheritance	Esporádico Sporadic Sporadisch Sporadique Sporadica Sporadic Esporádica
patType	morphological anomaly
prefixIRI	hrdo:pat_id_3460
prefLabel	Stenosi valvolare polmonare congenita Estenosis pulmonar valvular Sténose valvulaire pulmonaire congénitale Pulmonalstenose, valvuläre Congenital pulmonary valve stenosis Estenose da válvula pulmonar
prevalence	1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0017865	MONDO	LOOM
http://purl.bioontology.org/ontology/ICD10/Q22.1	ICD10	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q22.1	NLMVS	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q22.1	ICD10CM	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10010603	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0017865	DOVES	LOOM
http://purl.jp/bio/4/id/200906075940538943	IOBC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C197884	NCIT	LOOM
http://purl.bioontology.org/ontology/RCD/P602.	RCD	LOOM