{"orpha":3346,"name":"Tracheal agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Tracheal atresia"],"definition":"A rare congenital malformation characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3346/","orphanet_url":"https://www.orpha.net/en/disease/detail/3346","names":{"fr":{"name":"Agénésie de la trachée","synonyms":["Atrésie de la trachée"],"definition":"Malformation congénitale rare caractérisée par l'absence totale (agénésie) ou un développement insuffisant (atrésie) de la trachée. Dans les deux cas, la lumière trachéale est absente sur au moins une partie de sa longueur, sans communication proximale-distale entre le larynx et les voies respiratoires inférieures. Sur le plan fonctionnel et de prise en charge, l'agénésie et l'atrésie de la trachée sont considérées comme équivalentes."},"de":{"name":"Trachealagenesie","synonyms":["Trachealatresie"],"definition":"Eine seltene angeborene Fehlbildung, die durch eine entweder völlig fehlende (Agenesie) oder stark unterentwickelte (Atresie) Luftröhre gekennzeichnet ist. In beiden Fällen fehlt das Tracheal-Lumen zumindest auf einem Teil seiner Länge, und es besteht keine proximal-distale Verbindung zwischen dem Kehlkopf und den unteren Atemwegen. Funktionell und in Bezug auf die Behandlung sind Trachealagenesie und Trachealatresie gleichwertig."},"es":{"name":"Agenesia traqueal","synonyms":["Atresia traqueal"],"definition":"Es una malformación congénita poco frecuente caracterizada por la ausencia completa (agenesia) o infradesarrollo (atresia) de la tráquea. En ambos casos, la luz traqueal está ausente en al menos una parte de su longitud, sin comunicación proximal-distal entre la laringe y las vías respiratorias inferiores. Funcionalmente, y en términos de manejo médico, la agenesia traqueal y la atresia traqueal se consideran equivalentes."},"it":{"name":"Agenesia della trachea","synonyms":["Atresia della trachea"]},"nl":{"name":"Agenesie van trachea","synonyms":["Agenesie van luchtpijp","Atresie van trachea","Tracheale agenesie"],"definition":"Een zeldzame congenitale malformatie, gekenmerkt door volledig afwezige (agenesie) of ernstig onderontwikkelde (atresie) trachea. In beide gevallen is lumen van de luchtpijp afwezig in minstens een deel van de luchtpijp, zonder proximale-distale communicatie tussen larynx en onderste luchtwegen. Op vlak van functie en ziektebeheer zijn agenesie van trachea en atresie van trachea equivalent."},"pt":{"name":"Agenesia traqueal","synonyms":["Atrésia traqueal"],"definition":"Malformação congénita rara caracterizada por traqueia completamente ausente (agenesia) ou gravemente subdesenvolvida (atresia). Em ambos os casos, o lúmen traqueal está ausente em pelo menos uma parte da sua extensão, não havendo comunicação proximal-distal entre a laringe e as vias aéreas inferiores. Funcionalmente e em termos de tratamento, a agenesia traqueal e a atresia traqueal são equivalentes."},"pl":{"name":"Agenezja tchawicy","synonyms":["Tracheal atresia"]},"cs":{"name":"Ageneze trachey","synonyms":["Tracheal atresia"]},"uk":{"name":"Агенезія трахеї","synonyms":["Атрезія трахеї"],"definition":"A rare congenital malformation characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent."},"zh":{"name":"气管发育不全"},"tr":{"name":"Trakeal agenezi"}},"xrefs":[{"source":"ICD-10","code":"Q32.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"566688418"},{"source":"MONDO","code":"0018058","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536975","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1261567","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5233","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":156252,"name":"Tracheal anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100682","label":"Tracheal atresia","frequency":"Very frequent (99-80%)","criteria":null}]}}