{"orpha":984,"name":"Pulmonary agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-984/","orphanet_url":"https://www.orpha.net/en/disease/detail/984","names":{"fr":{"name":"Agénésie pulmonaire","definition":"Malformation respiratoire et du médiastin rare, non syndromique, caractérisée par l'absence complète unilatérale des tissus pulmonaires, des bronches et des vaisseaux pulmonaires. L'agénésie peut survenir de manière isolée ou en association avec certaines malformations congénitales, le plus souvent des anomalies cardiaques. La présentation est très inconstante, à type de rétrécissement des voies respiratoires, de stridor, de détresse respiratoire, d'infections respiratoires récurrentes et d'hypertension pulmonaire."},"de":{"name":"Lungenagenesie","definition":"Eine seltene, nicht-syndromale Fehlbildung der Atemwege oder des Mediastinums, die durch ein einseitiges vollständiges Fehlen von Lungengewebe, Bronchien und Lungengefäßen gekennzeichnet ist. Sie kann isoliert oder in Verbindung mit kongenitalen Fehlbildungen auftreten, am häufigsten mit Herzanomalien. Das Erscheinungsbild ist sehr variabel und umfasst eine Verengung der Atemwege, Stridor, Atemnot, rezidivierende Atemwegsinfektionen und pulmonale Hypertension."},"es":{"name":"Agenesia pulmonar","definition":"Es una malformación mediastínica o respiratoria no sindrómica, poco frecuente, caracterizada por la ausencia unilateral total de tejido pulmonar, bronquios y vasos pulmonares. La enfermedad puede presentarse de forma aislada o asociada a malformaciones congénitas, más frecuentemente a anomalías cardíacas. La presentación es altamente variable e incluye estrechamiento de las vías respiratorias, estridor, insuficiencia respiratoria, infecciones recurrentes del tracto respiratorio e hipertensión pulmonar."},"it":{"name":"Agenesia polmonare","definition":"È una malformazione rara non sindromica delle vie respiratorie o del mediastino, caratterizzata dall'agenesia monolaterale completa del tessuto polmonare, dei bronchi e dei vasi polmonari. Può essere isolata o associarsi a malformazioni congenite, soprattutto cardiopatie. Il quadro clinico è molto variabile e comprende il restringimento delle vie aeree, lo stridore, il distress respiratorio, le infezioni ricorrenti delle vie aeree e l'ipertensione polmonare."},"nl":{"name":"Pulmonale agenesie","definition":"Een zeldzame, niet-syndromale respiratoire of mediastinale malformatie gekarakteriseerd door unilaterale volledige afwezigheid van longweefsel, bronchiën, en pulmonale bloedvaten. Het kan geïsoleerd voorkomen of geassocieerd zijn met congenitale malformaties, meestal hartanomalieën. De presentatie is zeer variabel met onder meer vernauwing van de luchtwegen, stridor, ademnood, recurrente infecties van de luchtwegen, en pulmonale hypertensie."},"pt":{"name":"Agenesia pulmonar"},"pl":{"name":"Agenezja płuc"},"cs":{"name":"Ageneze plic"},"uk":{"name":"Легенева агенезія","definition":"A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension."},"zh":{"name":"肺发育不全"},"tr":{"name":"Pulmoner agenezis"}},"xrefs":[{"source":"ICD-10","code":"Q33.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA75.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"134836096"},{"source":"MONDO","code":"0020110","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562992","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265780","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9119","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037322","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}