{"orpha":2444,"name":"Congenital pulmonary airway malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CCAM","CPAM","Congenital cystic adenomatoid malformation of the lung","Congenital cystic adenomatous malformation of the lung","Congenital cystic disease of the lung"],"definition":"A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2444/","orphanet_url":"https://www.orpha.net/en/disease/detail/2444","names":{"fr":{"name":"Malformation congénitale des voies aériennes pulmonaires","synonyms":["CCAM","CPAM","MAKP","MCVAP","Maladie adénomatoïde kystique du poumon","Malformation adénomatoïde kystique du poumon"],"definition":"Malformation respiratoire rare caractérisée par une masse hamartomateuse dans le tissu pulmonaire non fonctionnel et désorganisé, évoluant vers une masse plus ou moins kystique ou adénomatoïde. La présentation clinique, le pronostic et la présence de malformations associées dépendent du sous-type de la lésion. Sur le plan histopathologique, on peut distinguer cinq sous-types (allant de 0 à 4)."},"de":{"name":"Kongenitale Fehlbildung der Atemwege","synonyms":["CCAM","CPAM","Kongenitale zystische Krankheit der Lunge","Kongenitale zystische adenomatoide Fehlbildung der Lunge"],"definition":"Eine seltene polyzystische Lungenerkrankung, die durch eine progrediente zystische Zerstörung der Lunge und lymphatische Anomalien gekennzeichnet ist und häufig von renalen Angiomyolipomen (AML) begleitet wird."},"es":{"name":"Malformación congénita de las vías aéreas pulmonares","synonyms":["CCAM","CPAM","Enfermedad quística congénita del pulmón","Malformación adenomatoide quística congénita del pulmón"],"definition":"Es una malformación respiratoria poco frecuente, caracterizada por una masa hamartomatosa de tejido pulmonar no funcionante de extensión variable y con un grado variable de cambios quísticos o adenomatoides. La presentación clínica, el pronóstico y la presencia de anomalías asociadas dependen del subtipo de la lesión. Según los hallazgos histopatológicos, se pueden diferenciar cinco subtipos (tipos 0 a 4)."},"it":{"name":"Malformazione congenita delle vie aeree polmonari","synonyms":["CCAM","CPAM","Malattia cistica congenita del polmone","Malformazione adenomatoide cistica congenita del polmone"],"definition":"Si tratta di una malformazione rara dell'apparato respiratorio, caratterizzata da una massa amartomatosa di tessuto polmonare non funzionante di dimensioni variabili, e da alterazioni cistiche o adenomatoidi di grado variabile. Il quadro clinico, la prognosi e le eventuali anomalie associate dipendono dal sottotipo della lesione. L'esame istopatologico permette di differenziare la malattia in cinque sottotipi (tipo 0 - 4)."},"nl":{"name":"Congenitale malformatie van pulmonale luchtwegen","synonyms":["CCAM","CPAM","Congenitale cystische adenomateuze malformatie van long","Congenitale cystische ziekte van long"],"definition":"Een zeldzame malformatie van ademhalingsstelsel, gekarakteriseerd door een hamartomateuze massa bestaande uit niet-functioneel longweefsel met een variabele omvang en variabele gradaties van cystische of adenomatoïde verandering. Klinische presentatie, prognose, en aanwezigheid van geassocieerde afwijkingen zijn afhankelijk van het subtype van de laesie. Op basis van histopathologische bevindingen kunnen vijf subtypes (types 0 tot 4) onderscheiden worden."},"pt":{"name":"Malformação das vias aéreas pulmonares congénita","synonyms":["Malformação adenomatóide quística do pulmão"]},"pl":{"name":"Wrodzona malformacja dróg oddechowych w płucach","synonyms":["CCAM"]},"cs":{"name":"Vrozené vývojové vady dýchacích cest","synonyms":["CCAM","CPAM","Vrozená cystická adenomatoidní malformace plic"]},"uk":{"name":"Вроджена вада розвитку легеневих дихальних шляхів","synonyms":["CCAM","Вроджена кістозна аденоматоїдна мальформація легень","Вроджена кістозно-аденоматозна мальформація легень","Вроджена кістозна хвороба легень","CPAM"],"definition":"A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated."},"zh":{"name":"先天性肺呼吸道畸形","synonyms":["先天性肺囊性腺瘤样畸形"]},"tr":{"name":"Doğumsal pulmoner hava yolu malformasyonu","synonyms":["CCAM","CPAM","Akciğerin doğumsal kistik hastalığı","Akciğerin doğumsal kistik adenomatoid malformasyonu","Akciğerin 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":"E","icd_relation":"specific","validated":true,"icd11_uri":"2091138945"},{"source":"MONDO","code":"0016580","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015615","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010668","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087693","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":280827,"name":"Congenital pulmonary airway malformation type 0","type":"Clinical subtype"},{"orpha":280832,"name":"Congenital pulmonary airway malformation type 1","type":"Clinical subtype"},{"orpha":280840,"name":"Congenital pulmonary airway malformation type 2","type":"Clinical subtype"},{"orpha":280847,"name":"Congenital pulmonary airway malformation type 3","type":"Clinical subtype"},{"orpha":280854,"name":"Congenital pulmonary airway malformation type 4","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.2,"area":"Europe","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":2.9,"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":17.7,"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":"1-9 / 100 000","value":1.0,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[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":1.4,"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":17.1,"area":"Netherlands","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":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 / 1 000 000","value":0.7,"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":3.8,"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":12.3,"area":"Switzerland","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":18.1,"area":"United Kingdom","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":3.2,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0002086","label":"Abnormality of the respiratory system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}