{"orpha":137920,"name":"Choanal atresia, bilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, usually sporadic, congenital nose and cavum anomaly characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. It is caused by blockade of the nose on both sides by bony or soft tissue formed during embryological development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137920/","orphanet_url":"https://www.orpha.net/en/disease/detail/137920","names":{"fr":{"name":"Atrésie bilatérale des choanes","synonyms":["Atrésie choanale bilatérale"],"definition":"L'atrésie bilatérale des choanes est une anomalie congénitale généralement sporadique (mais quelques cas familiaux ont été rapportés), observée plus fréquemment chez les sujets féminins que masculins (ratio 2 :1). Le nez est bloqué des deux côtés par du tissu mou ou osseux formé au cours du développement embryologique, ce qui conduit à une insuffisance respiratoire soulagée par les pleurs et la rhinorrhée se présentant à la naissance."},"de":{"name":"Choanalatresie, bilaterale","definition":"Die beidseitige Choanalatresie ist eine angeborene und in der Regel sporadische Anomalie (einige familiäre Fälle wurden beschrieben). Das weibliche Geschlecht ist häufiger betroffen (w:m = 2:1). Die Nase ist auf beiden Seiten blockiert durch knöchernes oder weiches Gewebe, das sich während der embryologischen Entwicklung bildet. Charakteristisch sind seit der Geburt bestehende Atemnot (die durch Schreien gebessert wird) und Rhinorrhoe."},"es":{"name":"Atresia de coanas bilateral","synonyms":["Atresia coanal bilateral"],"definition":"La atresia bilateral de coanas es una anomalía congénita que normalmente es esporádica (pero se ha informado de algunos casos familiares), vista con más frecuencia en mujeres que en hombres (2:1), y en la que la nariz está bloqueada en ambos lados por hueso o tejido blando formado durante el desarrollo embrionario. Se caracteriza por dificultad respiratoria que se alivia con el llanto y rinorrea presente al nacimiento."},"it":{"name":"Atresia coanale bilaterale","definition":"L'atresia bilaterale delle coane è un difetto congenito, di solito sporadico (sono stati descritti alcuni casi familiari), più comune nelle femmine (rapporto F/M 2:1), nel quale il naso è otturato da tessuti molli od ossei che si formano durante lo sviluppo embrionale, su entrambi i lati. È caratterizzata da distress respiratorio, attenuato dal pianto e dalla rinorrea, che è presente alla nascita."},"nl":{"name":"Choane atresie, bilaterale","definition":"Bilaterale choanale atresie is een aangeboren afwijking die gewoonlijk sporadisch is (maar enkele familiale gevallen werden gemeld) en gewoonlijk meer voorkomt bij vrouwen dan bij mannen (2:1), en waarbij de neus aan beide zijden geblokkeerd is door benig of zacht weefsel dat gevormd werd tijdens de embryologische ontwikkeling. De aandoening wordt gekenmerkt door ademhalingsproblemen die verzacht worden door huilen en rinorroe die zich voordoet bij de geboorte."},"pt":{"name":"Atresia das coanas, bilateral"},"pl":{"name":"Obustronna atrezja nozdrzy"},"cs":{"name":"Choanální atrézie, bilaterální"},"uk":{"name":"Атрезія хоан, двостороння","definition":"A rare, usually sporadic, congenital nose and cavum anomaly characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. It is caused by blockade of the nose on both sides by bony or soft tissue formed during embryological development."},"zh":{"name":"双侧鼻后孔闭锁","definition":"双侧鼻后孔闭塞是一种通常为偶发的先天性异常（但也有一些家族病例报道），女性比男性更常见（2:1），胚胎发育过程中形成的骨质或软组织阻塞双侧鼻部。其特征是通过啼哭和出生时出现的鼻漏缓解呼吸窘迫。"},"tr":{"name":"Koanal atrezi, iki taraflı"}},"xrefs":[{"source":"ICD-10","code":"Q30.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA70.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1138913171"},{"source":"MONDO","code":"0015313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4025317","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19890","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":137914,"name":"Choanal atresia","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}