{"orpha":99087,"name":"Coronary ostial stenosis or atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["COSA","Congenital coronary arterial orifice stenosis or atresia","Congenital stenosis or atresia of a coronary ostium"],"definition":"A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99087/","orphanet_url":"https://www.orpha.net/en/disease/detail/99087","names":{"fr":{"name":"Sténose ou atrésie ostiale coronaire","synonyms":["Sténose ou atrésie congénitale d'un orifice artériel coronaire","Sténose ou atrésie congénitale d'un ostium coronaire"],"definition":"Anomalie congénitale des artères coronaires rare caractérisée par une occlusion congénitale, partielle ou totale, de l'orifice de l'artère coronaire gauche ou droite, associée à une hypoplasie du segment proximal de l'artère coronaire correspondante. Elle peut se manifester par un retard de croissance staturo-pondérale, une dyspnée, une syncope, une angine de poitrine, une tachycardie ventriculaire, une ischémie myocardique et/ou une mort subite."},"de":{"name":"Koronare Ostiumstenose oder Atresie","synonyms":["COSA","Koronarostiumstenose oder -atresie, kongenitale"],"definition":"Eine seltene angeborene Fehlbildung der Koronararterien, die durch einen angeborenen, teilweisen oder vollständigen Verschluss der linken oder rechten Koronararterienöffnung gekennzeichnet ist und mit einer Hypoplasie des proximalen Segments der entsprechenden Koronararterie einhergeht. Sie kann sich durch Gedeihstörung, Atemnot, Ohnmacht, Angina pectoris, ventrikuläre Tachykardie, Myokardischämie und/oder plötzlichen Tod äußern."},"es":{"name":"Estenosis o atresia ostial coronaria","synonyms":["Estenosis o atresia congénita ostial coronaria"],"definition":"Es una malformación congénita poco frecuente de la arteria coronaria caracterizada por una oclusión congénita, parcial o total, del orificio de la arteria coronaria izquierda o derecha, asociada a hipoplasia del segmento proximal de la arteria coronaria correspondiente. Puede asociar fallo de medro, disnea, síncope, angina de pecho, taquicardia ventricular, isquemia miocárdica y/o muerte súbita."},"it":{"name":"Stenosi o atrofia dell'ostium coronarico","definition":"La stenosi o l'atresia congenita dell'ostio coronarico è una malformazione congenita rara dell'arteria coronaria, caratterizzata dall'occlusione congenita, parziale o completa, dell'orifizio dell'arteria coronaria sinistra o destra, associata ad un'ipoplasia del segmento prossimale dell'arteria coronaria interessata. Può esordire con ritardo della crescita, dispnea, sincope, angina pectoris, tachicardia ventricolare, ischemia del miocardio e/o morte improvvisa."},"nl":{"name":"Coronaire ostiale stenose of atresie","synonyms":["COSA","Congenitale stenose of atresie van een coronair ostium","Congenitale stenose of atresie van een coronaire arteriële opening"],"definition":"Een zeldzame congenitale malformatie van kransslagader, gekenmerkt door congenitale, partiële of volledige occlusie van de uitmonding van linker of rechter kransslagader, geassocieerd met hypoplasie van het proximale segment van de overeenkomstige kransslagader. De aandoening kan zich manifesteren met niet-gedijen, dyspneu, syncope, angina pectoris, ventriculaire tachycardie, myocardiale ischemie en/of plots overlijden."},"pt":{"name":"Óstio coronário, estenose ou atrofia"},"pl":{"name":"Zwężenie lub zanik ujścia wieńcowego","synonyms":["COSA","Congenital coronary arterial orifice stenosis or atresia","Congenital stenosis or atresia of a coronary ostium"],"definition":"Rzadka wada wrodzona tętnicy wieńcowej, charakteryzująca się wrodzoną, częściową lub całkowitą, niedrożnością lewego lub prawego ujścia tętnicy wieńcowej, połączoną z hipoplazją proksymalnego odcinka odpowiedniej tętnicy wieńcowej. Może objawiać się opóźnieniem wzrastania, dusznością, omdleniami, dusznicą bolesną, częstoskurczem komorowym, niedokrwieniem mięśnia sercowego i/lub nagłym zgonem."},"cs":{"name":"Stenóza nebo atrofie koronárního ostia","synonyms":["COSA","Congenital coronary arterial orifice stenosis or atresia","Congenital stenosis or atresia of a coronary ostium"]},"uk":{"name":"Стеноз або атрезія вустя коронарної артерії","synonyms":["Вроджений стеноз або атрезія устя коронарної артерії","Вроджений стеноз або атрезія коронарного отвору","COSA"],"definition":"A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death."},"zh":{"name":"冠状动脉开口狭窄或闭锁","synonyms":["先天性冠状动脉口狭窄或闭锁"],"definition":"先天性冠状动脉口狭窄或闭锁是一种罕见的冠状动脉先天性畸形，其特征是左冠状动脉或右冠状动脉开口先天性、部分或完全闭塞，并伴有相应冠状动脉近端发育不良。它可能表现为生长发育不良、呼吸困难、晕厥、心绞痛、室性心动过速、心肌缺血和/或猝死。"},"tr":{"name":"Koroner ostial stenoz veya atrezi","synonyms":["COSA","Koroner ostiumun doğumsal stenozu veya atrezisi","Doğumsal koroner arter açıklığı darlığı veya atrezi"]}},"xrefs":[{"source":"ICD-10","code":"Q24.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA86.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1460525276"},{"source":"MONDO","code":"0020423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575847","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":542822,"name":"Anomaly of the coronary ostia","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}