{"orpha":3348,"name":"Tracheobronchopathia osteochondroplastica","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Tracheopathia osteoplastica"],"definition":"A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3348/","orphanet_url":"https://www.orpha.net/en/disease/detail/3348","names":{"fr":{"name":"Trachéobronchopathie chondro-ostéoplastique","synonyms":["Trachéopathie ostéoplastique"],"definition":"Maladie respiratoire bénigne idiopathique rare caractérisée par la présence de nodules cartilagineux et/ou osseux sous-muqueux dans la trachée avec ou sans atteinte des bronches principales&nbsp;; l'atteinte peut s'observer à tout endroit le long des parties antérieures et latérales des parois de l'arbre trachéo-bronchique, la partie postérieure étant épargnée."},"de":{"name":"Tracheobronchopathia osteochondroplastica","synonyms":["Tracheopathia osteoplastica"],"definition":"Eine idiopathische und gutartige Erkrankung der großen Atemwege, die durch submuköse osteokartilaginöse Knötchen in der Luftröhre mit oder ohne Beteiligung der großen Bronchien gekennzeichnet ist. Die vorderen und seitlichen Wände des Tracheobronchialbaums können überall betroffen sein, wobei die hinteren Wände verschont bleiben."},"es":{"name":"Traqueobroncopatía osteocondroplástica","definition":"Es una enfermedad respiratoria idiopática, benigna y poco frecuente, caracterizada por la presencia de nódulos cartilaginosos y/o óseos submucosos en la tráquea, con o sin afectación de los bronquios principales; la afectación puede producirse en cualquier parte de las paredes anterior y lateral del árbol traqueobronquial, con preservación de las paredes posteriores."},"it":{"name":"Tracheobroncopatia osteocondroplastica","synonyms":["Tracheopatia osteoplastica"]},"nl":{"name":"Tracheobronchopathia osteochondroplastica","synonyms":["Tracheopathia osteoplastica"],"definition":"Een zeldzame idiopathische, goedaardige respiratoire aandoening, gekenmerkt door submucosale kraakbenige en/of benige noduli die voorkomen in de luchtpijp, met of zonder betrokkenheid van de voornaamste luchtpijpvertakkingen; potentieel kunnen ze eender waar langs de anterieure en laterale wanden van de tracheobronchiale boom optreden, terwijl posterieure wanden gespaard blijven."},"pt":{"name":"Traqueo-broncopatia osteocondroplásica","synonyms":["Traqueopatia osteoplásica"]},"pl":{"name":"Tracheobronchopatia osteochondroplastyczna","synonyms":["Tracheopatia osteoplastyczna"]},"cs":{"name":"Tracheobronchopatia osteochondroplastica","synonyms":["Tracheopathia osteoplastica"]},"uk":{"name":"Остеохондропластична трахеобронхопатія","synonyms":["Остеопластична трахеопатія"],"definition":"A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls."},"zh":{"name":"骨化性气管支气管病","synonyms":["气管骨形成症"]},"tr":{"name":"Trakeobronkopatia osteokondroplastika","synonyms":["Trakeopati osteoplastika"]}},"xrefs":[{"source":"OMIM","code":"189961","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J98.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CA27.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1797446244"},{"source":"MONDO","code":"0008587","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536977","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0520538","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5235","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":400.0,"area":"Worldwide","status":"Validated","source":"24865333[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-06","source":"33183038[PMID]_2509829[PMID]_31171132[PMID]_32339049[PMID]","terms":[{"hpo":"HP:0031245","label":"Productive cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002787","label":"Tracheal calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032016","label":"Abnormal sputum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005607","label":"Abnormal tracheobronchial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100593","label":"Calcification of cartilage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031352","label":"Chest tightness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very rare (<4-1%)","criteria":null}]}}