{"orpha":99084,"name":"Peripheral pulmonary stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Branch pulmonary artery stenosis","Pulmonary branch stenosis"],"definition":"Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99084/","orphanet_url":"https://www.orpha.net/en/disease/detail/99084","names":{"fr":{"name":"Sténoses des branches pulmonaires","synonyms":["Sténose de l'artère pulmonaire","Sténose des branches de l'artère pulmonaire"],"definition":"Anomalie congénitale rare des artères de gros calibre, pouvant affecter un seul ou plusieurs endroits, de manière isolée ou en association avec d'autres malformations cardiaques congénitales (sténose valvulaire pulmonaire, malformations septales auriculaires ou ventriculaires ou tétralogie de Fallot) et des syndromes génétiques (syndrome de Williams, syndrome d'Alagile). Le tableau clinique est variable et comprend un souffle cardiaque, une dyspnée, une syncope, une douleur thoracique et des symptômes associés à l'hypertension pulmonaire."},"de":{"name":"Periphere Pulmonalstenose","synonyms":["Pulmonalisaststenose","Stenose der Pulmonalarterienäste"]},"es":{"name":"Estenosis pulmonar periférica","synonyms":["Estenosis de la rama de la arteria pulmonar","Estenosis de ramas pulmonares"],"definition":"La estenosis pulmonar periférica es una anomalía congénita poco frecuente de las grandes arterias que puede ocurrir en una o en múltiples localizaciones, de forma aislada o en asociación con otros defectos cardíacos congénitos (estenosis de la válvula pulmonar, comunicación interventricular o interauricular o tetralogía de Fallot) y síndromes genéticos (síndrome de Williams y de Alagille). La presentación clínica es variable e incluye soplos cardíacos, disnea, síncope, dolor torácico, así como síntomas asociados a hipertensión pulmonar."},"it":{"name":"Stenosi polmonare periferica","definition":"La stenosi polmonare periferica è un'anomalia congenita rara delle grandi arterie, che può avere una o più localizzazioni; può essere isolata o associata ad altre cardiopatie congenite (stenosi della valvola polmonare, difetti del setto interatriale o interventricolare, tetralogia di Fallot) e a malattie genetiche (sindrome di Williams e di Alagille). Il quadro clinico è variabile e comprende il soffio cardiaco, la dispnea, la sincope, il dolore toracico e i segni secondari all'ipertensione polmonare."},"nl":{"name":"Perifere stenose van arteria pulmonalis","synonyms":["Perifere stenose van longslagader","Pulmonaaltakstenose","Stenose van tak van arteria pulmonalis","Stenose van tak van longslagader"],"definition":"Perifere pulmonalisklepstenose is een zeldzame congenitale anomalie van de grote arteriën die op één of meerdere plaatsen kan voorkomen, geïsoleerd of geassocieerd met andere congenitale hartdefecten (pulmonalisklepstenose, atrium- of ventrikelseptumdefect, of tetralogie van Fallot) en genetische syndromen (syndroom van Williams, syndroom van Alagille). Het klinisch beeld is variabel en omvat hartgeruis, dyspneu, syncope, pijn in de borst en symptomen geassocieerd aan pulmonale hypertensie."},"pt":{"name":"Estenose dos ramos pulmonares"},"pl":{"name":"Zwężenie gałęzi tętnicy płucnej","synonyms":["Branch pulmonary artery stenosis","Pulmonary branch stenosis"],"definition":"*Zwężenie gałęzi tętnicy płucnej jest rzadką wrodzoną wadą wielkich tętnic, która może wystąpić w jednej lub wielu lokalizacjach jako wada izolowana lub w skojarzeniu z innymi wrodzonymi wadami serca (zwężeniem zastawki płucnej, wadami przegrody przedsionkowej lub międzykomorowej lub tetralogią Fallota) lub zespołami genetycznymi (zespołem Williamsa lub Alagille'a). Obraz kliniczny jest zmienny i obejmuje następujące objawy: szmery serca, duszność, omdlenia, ból w klatce piersiowej i objawy związane z nadciśnieniem płucnym."},"cs":{"name":"Stenóza větve plicnice","synonyms":["Branch pulmonary artery stenosis","Pulmonary branch stenosis"]},"uk":{"name":"Периферичний стеноз легеневої артерії","synonyms":["Стеноз гілки легеневої артерії","Стеноз легеневої гілки"],"definition":"Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms."},"zh":{"name":"周围肺动脉狭窄","synonyms":["分支性肺动脉狭窄"],"definition":"周围型肺动脉狭窄是一种罕见的先天性大动脉畸形，可发生在单个或多个部位，单独发生或合并其他先天性心脏病(瓣膜肺动脉瓣狭窄、房间隔缺损或室间隔缺损或法洛四联症)和遗传综合征(Williams、Alagile综合征)。临床表现多样，包括心脏杂音、呼吸困难、晕厥、胸痛和肺动脉高压相关症状。"},"tr":{"name":"Periferik pulmoner stenoz","synonyms":["Pulmoner dal darlığı","Dal pulmoner arter darlığı"]}},"xrefs":[{"source":"ICD-10","code":"Q25.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8B.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"499211140"},{"source":"MONDO","code":"0020420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3531782","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4589","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":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}