{"orpha":3189,"name":"Congenital pulmonary valvar stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital stenosis of pulmonary valve"],"definition":"A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3189/","orphanet_url":"https://www.orpha.net/en/disease/detail/3189","names":{"fr":{"name":"Sténose valvulaire pulmonaire congénitale","synonyms":["Sténose congénitale de la valve pulmonaire"],"definition":"Malformation cardiaque congénitale rare caractérisée par l'obstruction de la voie d'éjection ventriculaire, associée à une présentation clinique pouvant aller d'une sténose critique pendant la période néonatale à une légère sténose asymptomatique. L'obstruction valvulaire peut être associée à une obstruction aux niveaux sous-pulmonaire ou supravalvulaire (sténose pulmonaire valvulaire, sous-pulmonaire, supravalvulaire)."},"de":{"name":"Valvuläre Pulmonalstenose, kongenitale","synonyms":["Angeborene Stenose der Pulmonalklappe","Pulmonalklappestenose, kongenitale"],"definition":"Eine seltene angeborene Fehlbildung des Herzens, die durch eine Obstruktion des Durchflusses durch die Pulmonalklappe gekennzeichnet ist und deren klinisches Erscheinungsbild von einer kritischen Stenose im Neugeborenenalter bis hin zu einer asymptomatischen leichten Stenose reichen kann. Die Obstruktion auf Valvularebene kann mit einer Obstruktion auf subpulmonaler oder supravalvärer Ebene einhergehen (valväre, subpulmonale, supravalväre Pulmonalstenose (PS)."},"es":{"name":"Estenosis valvular pulmonar congénita","synonyms":["Estenosis congénita de válvula pulmonar"],"definition":"Es una malformación cardíaca congénita poco frecuente caracterizada por una obstrucción del flujo a través de la válvula pulmonar con una presentación clínica que puede variar desde estenosis crítica de inicio en el período neonatal a estenosis asintomática leve. La obstrucción a nivel valvular puede ocurrir a nivel subpulmonar o supravalvar (valvar, subpulmonar, estenosis pulmonar supravalvar (PS))."},"it":{"name":"Stenosi congenita della valvola polmonare","definition":"Si tratta di una cardiopatia congenita rara, caratterizzata da un'ostruzione del flusso attraverso la valvola polmonare; il quadro clinico varia dalla stenosi critica ad esordio neonatale, fino alla stenosi lieve asintomatica. L'ostruzione a livello valvolare può associarsi a un'ostruzione a livello sottopolmonare o sopravalvolare (stenosi polmonare valvolare, sottopolmonare e sopravalvolare)."},"nl":{"name":"Congenitale pulmonalisklepstenose","synonyms":["Congenitale stenose van pulmonalisklep"],"definition":"Een congenitale hartmalformatie, gekenmerkt door een obstructie van de stroom doorheen de pulmonalisklep met een klinisch beeld dat kan variëren van kritieke stenose in de neonatale periode tot asymptomatische milde stenose. De obstructie ter hoogte van de klep kan geassocieerd zijn met obstructie van subpulmonaal of supravalvulair gebied (valvulaire, subpulmonale, supravalvulaire pulmonalisklepstenose (PS))."},"pt":{"name":"Estenose valvular pulmonar congénita","synonyms":["Estenose congénita da válvula pulmonar"]},"pl":{"name":"Wrodzone zwężenie zastawki tętnicy płucnej","synonyms":["Congenital stenosis of pulmonary valve"]},"cs":{"name":"Vrozená stenóza pulmonální chlopně","synonyms":["Congenital stenosis of pulmonary valve"]},"uk":{"name":"Вроджений стеноз легеневого клапана","synonyms":["Вроджений стеноз легеневого клапана"],"definition":"A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS)."},"zh":{"name":"先天性肺动脉瓣狭窄","synonyms":["Congenital stenosis of pulmonary valve"]},"tr":{"name":"Doğumsal pulmoner kapak darlığı","synonyms":["Congenital stenosis of pulmonary valve"]}},"xrefs":[{"source":"OMIM","code":"265500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q22.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8A.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"353180069"},{"source":"MONDO","code":"0017865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98719,"name":"Pulmonary artery or pulmonary branch anomaly","classifications":[147,148,198]}],"children":[{"orpha":3190,"name":"Subpulmonary stenosis","type":"Clinical subtype"},{"orpha":3192,"name":"Supravalvular pulmonary stenosis","type":"Clinical subtype"},{"orpha":99054,"name":"Valvular pulmonary stenosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":27.2,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.6,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.1,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.6,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":59.5,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":63.6,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":63.1,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":26.1,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":48.2,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.3,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":35.3,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.4,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":23.7,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.7,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":98.4,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":42.5,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.4,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null}]}}