{"orpha":280827,"name":"Congenital pulmonary airway malformation type 0","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CPAM type 0","Congenital cystic adenomatoid malformation of the lung type 0","Congenital cystic adenomatous malformation of the lung type 0"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280827/","orphanet_url":"https://www.orpha.net/en/disease/detail/280827","names":{"fr":{"name":"Malformation congénitale des voies aériennes pulmonaires type 0","synonyms":["CPAM type 0","Maladie adénomatoïde kystique du poumon type 0","Malformation adénomatoïde kystique du poumon type 0"],"definition":"Sous-type de malformation congénitale rare des voies aériennes pulmonaires caractérisée par un arrêt global du développement pulmonaire, des poumons de petite taille d'aspect dense, granuleux, présentant sur le plan histologique des structures qui ressemblent à celles des bronches avec des muscles lisses, des glandes et de nombreuses plaques cartilagineuses logées dans un tissu mésenchymateux lâche et vasculaire. Se manifestant à la naissance, la maladie engage le pronostic vital."},"de":{"name":"Kongenitale Fehlbildung der Atemwege Typ 0","synonyms":["CPAM Typ 0","Kongenitale zystische adenomatoide Fehlbildung der Lunge Typ 0","Kongenitale zystische adenomatöse Fehlbildung der Lunge Typ 0"],"definition":"Ein seltener Subtyp einer angeborenen Fehlbildung der Atemwege, der durch einen globalen Stillstand der Lungenentwicklung mit kleinen, solide wirkenden Lungen mit diffus körniger Oberfläche gekennzeichnet ist, die histologisch bronchusähnliche Strukturen mit glatter Muskulatur, Drüsen und zahlreichen Knorpelplatten aufweisen, eingebettet in lockeres, vaskuläres Mesenchymgewebe. Die Erkrankung tritt bei der Geburt auf und ist mit dem Leben unvereinbar."},"es":{"name":"Malformación congénita de las vías aéreas pulmonares tipo 0","synonyms":["CPAM tipo 0","Malformación adenomatoide quística congénita del pulmón tipo 0","Malformación adenomatosa quística congénita del pulmón tipo 0"],"definition":"Es un subtipo poco frecuente de malformación congénita de las vías aéreas pulmonares caracterizado por la detención global del desarrollo pulmonar, resultando en unos pulmones pequeños de apariencia sólida con una superficie granular difusa. Histológicamente, presenta estructuras similares a los bronquios con músculo liso, glándulas y numerosas placas de cartílago, embebidas en tejido mesenquimal vascular, laxo. La afectación está presente al nacimiento, siendo incompatible con la vida."},"it":{"name":"Malformazione congenita delle vie aeree polmonari, tipo 0","synonyms":["CPAM, tipo 0","Malformazione adenomatoide cistica congenita del polmone, tipo 0"],"definition":"Si tratta di un sottotipo raro di malformazione congenita delle vie aeree polmonari, caratterizzato da arresto globale dello sviluppo polmonare con polmoni di piccole dimensioni e dall'aspetto solido, con una superficie diffusamente granulare; dal punto di vista istologico, presentano strutture simili ai bronchi con muscolatura liscia, ghiandole e numerose placche cartilaginee, inserite in un tessuto mesenchimale lasso e vascolare. La malattia è congenita e letale."},"nl":{"name":"Congenitale malformatie van pulmonale luchtwegen type 0","synonyms":["Congenitale cystische adenomatoïde malformatie van long type 0","CPAM type 0","Congenitale cystische adenomateuze malformatie van long type 0"],"definition":"Een zeldzaam subtype van congenitale malformatie van pulmonale luchtwegen, gekarakteriseerd door algehele stilstand van ontwikkeling van long met kleine, solide uitziende longen met diffuus granulair oppervlak, histologisch gekenmerkt door op bronchus gelijkende structuren met glad spierweefsel, klieren, en talrijke kraakbeenplaten, ingebed in los, vasculair mesenchymaal weefsel. De aandoening presenteert zich bij de geboorte en is niet levensvatbaar."},"pt":{"name":"Malformação congénita das vias aéreas pulmonares, tipo 0","synonyms":["CPAM tipo 0"]},"pl":{"name":"Wrodzona malformacja dróg oddechowych płuc, typu 0","synonyms":["CPAM typu 0","Wrodzona torbielowatość gruczolakowata płuc typu 0"]},"cs":{"name":"Vrozená cystická adenomatozní malformace plic, typ 0","synonyms":["CPAM, typ 0","Vrozená cystická adenomatoidní malformace plic, typ 0","Vrozená malformace plicních bronchů, typ 0"]},"uk":{"name":"Вроджена вада розвитку легеневих дихальних шляхів, тип 0","synonyms":["Вроджена кістозна аденоматоїдна мальформація легень типу 0","Вроджена кістозно-аденоматозна мальформація легень типу 0","CPAM тип 0"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life."},"zh":{"name":"先天性肺气道畸形0型","synonyms":["先天性肺囊性腺瘤样畸形0型"]},"tr":{"name":"Doğumsal pulmoner hava yolu malformasyonu tip 0","synonyms":["CPAM tip 0","Akciğer tip 0'ın doğumsal kistik adenomatoid malformasyonu","Akciğer tip 0'ın 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":"1763273166"},{"source":"MONDO","code":"0017248","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437764","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}