{"orpha":137914,"name":"Choanal atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137914/","orphanet_url":"https://www.orpha.net/en/disease/detail/137914","names":{"fr":{"name":"Atrésie des choanes","synonyms":["Atrésie choanale"],"definition":"Anomalie congénitale des voies aériennes nasales postérieures caractérisée par l'obstruction d'une (unilatérale) ou de deux (bilatérale) ouverture(s) choanale(s), accompagnée des manifestations cliniques allant de la détresse respiratoire aiguë à l'obstruction nasale chronique."},"de":{"name":"Choanalatresie","definition":"Choanalatresie (CA) ist eine kongenitale Anomalie der hinteren Atemwege, die durch die Obstruktion einer (unilateral) oder beider (bilateral) Choanalaperturen gekennzeichnet ist, wobei klinische Manifestationen von akuter Atemnot bis hin zu chronischer Nasenobstruktion reichen."},"es":{"name":"Atresia de coanas","synonyms":["Atresia coanal"],"definition":"La atresia coanal (AC) es una anomalía congénita de la cavidad nasal posterior caracterizada por la obstrucción de una o ambas coanas (unilateral o bilateral), con manifestaciones clínicas que van desde el distrés respiratorio agudo hasta la obstrucción nasal crónica."},"it":{"name":"Atresia delle coane","definition":"L'atresia delle coane (CA) consiste in un'anomalia congenita delle vie aeree nasali posteriori, caratterizzata dall'ostruzione di una o entrambe le coane (rispettivamente, monolaterale o bilaterale), con segni clinici che vanno dal distress respiratorio acuto all'ostruzione cronica del naso."},"nl":{"name":"Choane atresie","synonyms":["Atresia choanae","Choanale atresie"],"definition":"Choanale atresie (CA) is een congenitale anomalie van de achterste bovenste (nasale) luchtwegen die gekarakteriseerd wordt door de obstructie van één (unilateraal) of beide (bilateraal) choanale opening(en), met klinische manifestaties gaande van acute ademnood tot chronische nasale obstructie."},"pt":{"name":"Atresia das coanas"},"pl":{"name":"Atrezja nozdrzy","definition":"Atrezja nozdrzy tylnych to wada wrodzona charakteryzująca się niedrożnością jednego (jednostronna) lub obydwu (obustronna) otworów wewnętrznych nosa, z różnym nasileniem objawów – od ostrej niewydolności oddechowej do przewlekłej niedrożności nosa."},"cs":{"name":"Choanální atrézie"},"uk":{"name":"Атрезія хоан","definition":"Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction."},"zh":{"name":"鼻后孔闭锁","definition":"鼻后孔闭锁（CA）是一种先天性鼻后气道畸形，其特征是单侧或双侧后鼻孔阻塞，临床表现从急性呼吸窘迫到慢性鼻塞不等。"},"tr":{"name":"Koanal atrezi"}},"xrefs":[{"source":"OMIM","code":"608911","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q30.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA70.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2099486655"},{"source":"MONDO","code":"0012155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002754","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008297","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008587","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[{"orpha":137920,"name":"Choanal atresia, bilateral","type":"Clinical subtype"},{"orpha":137917,"name":"Choanal atresia, unilateral","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.8,"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":14.6,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.7,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"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":7.2,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.7,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.9,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Poland","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":6.3,"area":"Spain","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":12.6,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.9,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-21","source":"29939546[PMID]_29280877[PMID]_26106591[PMID]","terms":[{"hpo":"HP:0031416","label":"Abnormal nasal mucus secretion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001742","label":"Nasal congestion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005321","label":"Mandibulofacial dysostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null}]}}