{"orpha":99083,"name":"Pulmonary artery hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PAH","Unilateral Pulmonary Artery Hypoplasia"],"definition":"A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99083/","orphanet_url":"https://www.orpha.net/en/disease/detail/99083","names":{"fr":{"name":"Hypoplasie de l'artère pulmonaire","synonyms":["Hypoplasie unilatérale de l'artère pulmonaire"],"definition":"Anomalie congénitale rare des artères de gros calibre caractérisée par divers signes et symptômes cliniques, tels qu'un souffle court, des infections récurrentes des voies respiratoires inférieures, une hypoplasie des poumons, une hypertension artérielle et une hémoptysie. L'anomalie peut être isolée ou associée à une cardiopathie congénitale, telle qu'une tétralogie de Fallot, une communication interauriculaire, une coarctation de l'aorte, une crosse aortique droite, un tronc artériel commun, une persistance du canal artériel et une atrésie pulmonaire."},"de":{"name":"Pulmonalarterienhypoplasie","synonyms":["Pulmonalarterienhypoplasie, unilaterale"]},"es":{"name":"Hipoplasia de la arteria pulmonar","synonyms":["Hipoplasia unilateral de la arteria pulmonar"],"definition":"Es una anomalía congénita de las grandes arterias, poco frecuente, caracterizada por diversos signos y síntomas clínicos, tales como dificultad respiratoria, infecciones recurrentes del tracto respiratorio inferior, hipoplasia e hipertensión pulmonar y hemoptisis. Puede tratarse de una anomalía aislada o asociada a cardiopatías congénitas, tales como la tetralogía de Fallot, comunicación interauricular, coartación de la aorta, arco aórtico derecho, tronco arterioso, ductus arterioso persistente y atresia pulmonar."},"it":{"name":"Ipoplasia dell'arteria polmonare","definition":"È un'anomalia congenita rara delle grandi arterie, caratterizzata da affanno, infezioni ricorrenti delle vie aeree inferiori, ipoplasia dei polmoni, ipertensione polmonare ed emottisi. L'anomalia può essere isolata o associata ad una cardiopatia congenita, come la tetralogia di Fallot, il difetto del setto atriale, la coartazione dell'aorta, l'arco aortico destroposto, il tronco arterioso, la pervietà del dotto arterioso e l'atresia polmonare."},"nl":{"name":"Hypoplasie van longslagader","synonyms":["PAH","Unilaterale hypoplasie van arteria pulmonalis"],"definition":"Een zeldzame, congenitale anomalie van de grote bloedvaten die gekarakteriseerd wordt door verschillende klinische tekenen en symptomen, waaronder kortademigheid, recurrente infecties van de onderste luchtwegen, longhypoplasie, pulmonale hypertensie, en hemoptoë. De anomalie kan geïsoleerd voorkomen of geassocieerd zijn met congenitale hartziekte, zoals tetralogie van Fallot, atriumseptumdefect, coarctatie van de aorta, rechter aortaboog, truncus arteriosus, persisterende ductus arteriosus en pulmonale atresie."},"pt":{"name":"Hipoplasia da artéria pulmonar"},"pl":{"name":"Hipoplazja tętnicy płucnej","synonyms":["PAH","Unilateral Pulmonary Artery Hypoplasia"]},"cs":{"name":"Hypoplázie plicní arterie","synonyms":["PAH","Unilateral Pulmonary Artery Hypoplasia"]},"uk":{"name":"Гіпоплазія легеневої артерії","synonyms":["PAH","Одностороння гіпоплазія легеневої артерії"],"definition":"A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia."},"zh":{"name":"肺动脉发育不全","synonyms":["单侧肺动脉发育不良"],"definition":"该病是一种罕见的先天性大动脉畸形，以各种临床症状和症状、呼吸急促为特征，包括复发性下呼吸道感染、肺发育不全、肺动脉高压和咯血。该异常可单独存在或与先天性心脏病相关，如法洛四联症、房间隔缺损、主动脉缩窄、右主动脉弓、动脉干、动脉导管未闭和肺动脉闭锁。"},"tr":{"name":"Pulmoner arter hipoplazisi","synonyms":["PAH","Unilateral pulmoner arter hipoplazisi"]}},"xrefs":[{"source":"ICD-10","code":"Q25.7","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA8B.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1766484567"},{"source":"MONDO","code":"0020419","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265910","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]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":12.5,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}