{"orpha":3161,"name":"Congenital pulmonary sequestration","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital bronchopulmonary sequestration"],"definition":"Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3161/","orphanet_url":"https://www.orpha.net/en/disease/detail/3161","names":{"fr":{"name":"Séquestration pulmonaire congénitale","synonyms":["Séquestration broncho-pulmonaire congénitale"],"definition":"Malformation respiratoire rare caractérisée par une masse kystique ou solide de tissu pulmonaire segmentaire primitif non fonctionnel qui ne communique pas avec l'arbre trachéo-bronchique et dont l'irrigation sanguine systémique est anormale. Les séquestrations pulmonaires intralobaires peuvent être asymptomatiques ou se manifester par des infections pulmonaires récurrentes, des hémoptysies, des douleurs thoraciques et une toux, et sont généralement diagnostiqués chez les enfants plus âgés et les adultes. La séquestration pulmonaire extralobaire, qui se manifeste par une détresse respiratoire, une cyanose, des difficultés à s'alimenter ou par des infections, peut être associée à d'autres anomalies et est principalement diagnostiquée chez les nouveau-nés ou les nourrissons."},"de":{"name":"Lungensequestration, kongenitale","synonyms":["Bronchopulmonale Sequester, kongenitale","Pulmonale Sequestration, kongenitale"],"definition":"Die angeborene Lungensequestration ist eine seltene respiratorische Fehlbildung, die durch eine zystische oder solide Masse aus nicht funktionierendem primitivem segmentalem Lungengewebe gekennzeichnet ist, die nicht mit dem Tracheobronchialbaum kommuniziert und eine anomale systemische Blutversorgung aufweist. Die intralobuläre Sequestration kann asymptomatisch sein oder sich mit rezidivierenden pulmonalen Infektionen, Hämoptysen, Brustschmerzen und Husten präsentieren und wird meist bei älteren Kindern und Erwachsenen diagnostiziert. Extralobäre pulmonale Sequestration zeigt sich mit Atemnot, Zyanose, Schwierigkeiten bei der Nahrungsaufnahme oder Infektionen, kann mit anderen Anomalien assoziiert sein und wird meist bei Neugeborenen oder Säuglingen diagnostiziert."},"es":{"name":"Secuestro pulmonar congénito","synonyms":["Secuestro broncopulmonar congénito"],"definition":"Es una malformación respiratoria poco frecuente caracterizada por una masa quística o sólida de tejido pulmonar segmentario primitivo no funcionante que no se comunica con el árbol traqueobronquial y presenta un suministro de sangre sistémico anómalo. El secuestro pulmonar intralobar puede ser asintomático o manifestarse con infecciones pulmonares recurrentes, hemoptisis, dolor torácico y tos, y por lo general se diagnostica en niños mayores y adultos. El secuestro pulmonar extralobar, que se manifiesta con dificultad respiratoria, cianosis, dificultad para la alimentación o infecciones, puede estar asociado a otras anomalías y se diagnostica principalmente en neonatos o lactantes."},"it":{"name":"Sequestro polmonare congenito","synonyms":["Sequestro broncopolmonare congenito"],"definition":"Il sequestro polmonare congenito è una malformazione rara dell'apparato respiratorio, caratterizzata dalla presenza di una massa cistica o solida che riguarda un segmento non funzionante del tessuto polmonare, che non comunica con l'albero tracheo-bronchiale e che viene nutrito da un flusso anomalo di sangue. I pazienti con sequestro polmonare intralobare possono essere asintomatici oppure presentare infezioni polmonari ricorrenti, emottisi, dolore toracico e tosse; di solito la malformazione viene diagnosticata nei bambini più grandi e negli adulti. Il sequestro polmonare extratralobare esordisce invece con distress respiratorio, cianosi, difficoltà di alimentazione o infezioni; può associarsi ad altre anomalie ed è diagnosticato soprattutto nei neonati o nei bambini piccoli."},"nl":{"name":"Congenitaal longsekwester","synonyms":["Congenitale bronchopulmonale sequestratie"],"definition":"Congenitaal longsekwester is een zeldzame respiratoire malformatie, en wordt gekarakteriseerd door een cystische of solide massa bestaande uit niet-functioneel primitief segmentaal longweefsel dat niet communiceert met de tracheobronchiale boom en dat een abnormale systemische bloedtoevoer krijgt. Intralobair longsekwester kan asymptomatisch zijn, of zich presenteren met recurrente pulmonale infecties, hemoptoë, pijn in de borst, en/of hoest, en wordt meestal gediagnosticeerd bij oudere kinderen en volwassenen. Extralobair longsekwester manifesteert zich met ademnood, cyanose, voedingsproblemen of infectie, kan geassocieerd zijn met andere anomalieën, en wordt meestal gediagnosticeerd bij neonaten of zuigelingen."},"pt":{"name":"Sequestro pulmonar congénito","synonyms":["Sequestro broncopulmonar congénito"]},"pl":{"name":"Wrodzona sekwestracja płuc","synonyms":["Wrodzona sekwestracja oskrzelowo-płucna"]},"cs":{"name":"Vrozená plicní sekvestrace","synonyms":["Vrozená bronchopulmonální sekvestrace"]},"uk":{"name":"Вроджена легенева секвестрація","synonyms":["Вроджена бронхолегенева секвестрація"],"definition":"Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants."},"zh":{"name":"先天性肺隔离症","synonyms":["先天性支气管肺隔离症"]},"tr":{"name":"Doğumsal pulmoner sekestrasyon","synonyms":["Doğumsal bronkopulmoner sekestrasyon"]}},"xrefs":[{"source":"ICD-10","code":"Q33.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA75.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1833083626"},{"source":"MONDO","code":"0017843","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001998","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0006288","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4593","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059160","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":[{"orpha":280821,"name":"Communicating congenital bronchopulmonary-foregut malformation","type":"Clinical subtype"},{"orpha":280811,"name":"Extralobar congenital pulmonary sequestration","type":"Clinical subtype"},{"orpha":280802,"name":"Intralobar congenital pulmonary sequestration","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}