{"orpha":280840,"name":"Congenital pulmonary airway malformation type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CCAM type 2","CPAM type 2","Congenital cystic adenomatoid malformation of the lung type 2","Congenital cystic adenomatous malformation of the lung type 2","Congenital cystic disease of the lung type 2"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280840/","orphanet_url":"https://www.orpha.net/en/disease/detail/280840","names":{"fr":{"name":"Malformation congénitale des voies aériennes pulmonaires type 2","synonyms":["CCAM type 2","CPAM type 2","MAPK type 2","MCVAP type 2","Maladie adénomatoïde kystique du poumon type 2","Malformation adénomatoïde kystique du poumon type 2"],"definition":"Sous-type rare de malformation congénitale des voies aériennes pulmonaires caractérisé par la présence d'une masse multikystique de tissu pulmonaire non fonctionnel, constituée de petits kystes de moins de 2 cm de diamètre. On observe des communications intrakystiques, parfois avec l'arbre trachéobronchique, généralement unilatérales et impliquant un seul lobe. La maladie se manifeste souvent par une détresse respiratoire en période néonatale ou dans la petite enfance. Elle est fréquemment associée à d'autres malformations congénitales graves, telles qu'une agénésie ou une dysgénésie rénale, une séquestration pulmonaire ou des malformations cardiaques."},"de":{"name":"Kongenitale Fehlbildung der Atemwege Typ 2","synonyms":["CCAM Typ 2","CPAM Typ 2","Kongenitale zystische Krankheit der Lunge Typ 2","Kongenitale zystische adenomatoide Fehlbildung der Lunge Typ 2"],"definition":"Ein seltener Subtyp einer angeborenen Fehlbildung der pulmonalen Atemwege, der durch eine multizystische Gewebeverdichtung von nicht funktionierendem Lungengewebe gekennzeichnet ist, die aus kleinen Zysten mit einem Durchmesser von weniger als 2 cm besteht. Die Läsionen haben intrazystische Verbindungen, können mit dem Tracheobronchialbaum verbunden sein und sind in der Regel einseitig, d. h. ein einzelner Lappen ist betroffen. Die Erkrankung zeigt sich häufig mit Atemnot in der Neugeborenenperiode oder im Säuglingsalter. Sie geht häufig mit anderen schweren kongenitalen Anomalien einher, wie z. B. Nierenagenesie oder -dysgenesie, pulmonale Sequestrierung oder kardiale Anomalien."},"es":{"name":"Malformación congénita de las vías aéreas pulmonares tipo 2","synonyms":["CCAM tipo 2","CCAM tipo II","Enfermedad quística congénita del pulmón tipo 2","Malformación adenomatoide quística congénita del pulmón tipo 2","Malformación adenomatosa quística congénita del pulmón tipo 2"],"definition":"Es un subtipo poco frecuente de malformación congénita de las vías aéreas pulmonares caracterizado por una masa multiquística de tejido pulmonar no funcionante, compuesta por pequeños quistes menores de 2 cm de diámetro. Las lesiones presentan comunicaciones intraquísticas, pudiendo estar conectadas al árbol traqueobronquial y, por lo general, son unilaterales, afectando a un único lóbulo. El trastorno a menudo se presenta con distrés respiratorio en el período neonatal o en la lactancia. Con frecuencia, se asocia a otras anomalías congénitas graves, tales como agenesia o disgenesia renal, secuestro pulmonar o anomalías cardíacas."},"it":{"name":"Malformazione congenita delle vie aeree polmonari, tipo 2","synonyms":["CCAM, tipo 2","CPAM, tipo 2","Malattia cistica congenita del polmone, tipo 2","Malformazione adenomatoide cistica congenita del polmone, tipo 2"],"definition":"Si tratta di un sottotipo raro di malformazione congenita delle vie aeree polmonari, caratterizzato da una massa multicistica di tessuto polmonare non funzionante costituita da piccole cisti di diametro inferiore a 2 cm. Le lesioni presentano comunicazioni intracistiche, possono essere connesse all'albero tracheobronchiale, in genere sono monolaterali, e interessano un solo lobo. Spesso la malattia esordisce con distress respiratorio nel periodo neonatale o nella prima infanzia. Spesso si associa ad altre anomalie congenite gravi, come l'agenesia o la disgenesia renale, il sequestro polmonare e le cardiopatie."},"nl":{"name":"Congenitale malformatie van pulmonale luchtwegen type 2","synonyms":["CCAM type 2","CPAM type 2","Congenitale cystische adenomateuze malformatie van long type 2","Congenitale cystische adenomatoïde malformatie van long type 2","Congenitale cystische ziekte van long type 2"],"definition":"Een zeldzaam subtype van congenitale malformatie van pulmonale luchtwegen, gekarakteriseerd door een multicystische massa van niet-functioneel longweefsel bestaande uit kleine cysten met een diameter kleiner dan 2 cm. De laesies vertonen intracystische communicatie, kunnen verbonden zijn met tracheobronchiale boom, en zijn meestal unilateraal, met betrokkenheid van een enkele kwab. De aandoening presenteert zich vaak met ademnood in de neonatale periode of in de zuigelingentijd. Het is vaak geassocieerd met andere ernstige congenitale anomalieen, zoals agenesie of dysgenesie van nier, longsekwestratie, of hartanomalieën."},"pt":{"name":"Malformação congénita das vias aéreas pulmonares, tipo 2","synonyms":["CCAM tipo II","CPAM tipo 2"]},"pl":{"name":"Wrodzona malformacja dróg oddechowych płuc, typu 2","synonyms":["CCAM typu 2","CPAM typu 2","Wrodzona choroba torbielowata płuc typu 2","Wrodzona torbielowatość gruczolakowata płuc typu 2"]},"cs":{"name":"Vrozená cystická adenomatozní malformace plic, typ 2","synonyms":["CCAM, typ 2","CPAM, typ 2","Vrozená cystická adenomatoidní malformace plic, typ 2","Vrozená malformace plicních bronchů, typ 2","Vrozené cystické onemocnění plic, typ 2"]},"uk":{"name":"Вроджена вада розвитку легеневих дихальних шляхів, тип 2","synonyms":["CCAM тип 2","Вроджена кістозна аденоматоїдна мальформація легень 2 типу","Вроджена кістозно-аденоматозна мальформація легень 2 типу","Вроджена кістозна хвороба легень 2 типу","CPAM тип 2"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities."},"zh":{"name":"先天性肺气道畸形2型","synonyms":["先天性肺囊性腺瘤性畸形2型"]},"tr":{"name":"Doğumsal pulmoner hava yolu malformasyonu tip 2","synonyms":["CCAM tip 2","CPAM tip 2","Akciğer tip 2'nin doğumsal kistik hastalığı","Akciğer tip 2'nin doğumsal kistik adenomatoid malformasyonu","Akciğer tip 2'nin doğumsal kistik adenomatöz malformasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q33.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA75.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1921224131"},{"source":"MONDO","code":"0017250","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2444,"name":"Congenital pulmonary airway malformation","classifications":[147,184,186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}