{"orpha":79127,"name":"Respiratory bronchiolitis-interstitial lung disease syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RB-ILD"],"definition":"Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79127/","orphanet_url":"https://www.orpha.net/en/disease/detail/79127","names":{"fr":{"name":"Bronchiolite respiratoire avec pneumopathie interstitielle","definition":"La bronchiolite respiratoire avec pneumopathie interstitielle est un trouble pulmonaire inflammatoire modéré développé par les fumeurs de cigarettes, et caractérisé par une dyspnée et une toux, des anomalies de la fonction pulmonaire causées par une pneumopathie mixte, restrictive et obstructive, des micronodules centrolobulaires révélés par des scanners à haute résolution, des opacités localisées en verre dépoli et un épaississement péribronchiolaire."},"de":{"name":"Respiratorische Bronchiolitis mit interstitieller Lungenerkrankung","synonyms":["RB-ILD"],"definition":"Respiratische Bronchiolitis - Interstitielle Lungenerkrankung ist eine milde entzündliche Lungenerkrankung von Zigarettenrauchern und gekennzeichnet durch Kurzlatmigkeit, Husten und gemischt restriktive und obstruktive Lungenfunktionsstörungen. Im hochauflösenden CT werden zentri-lobuläre Mikroknötchen, Milchglastrübung und peribronchioläre Verdickungen nachgewiesen."},"es":{"name":"Síndrome de bronquiolitis respiratoria-enfermedad pulmonar intersticial","synonyms":["RB-ILD"],"definition":"La bronquiolitis respiratoria - enfermedad pulmonar intersticial es una enfermedad pulmonar inflamatoria leve que desarrollan los fumadores y que se caracteriza por falta de aliento y tos, anomalías en la función pulmonar de la enfermedad pulmonar mixta restrictiva y obstructiva, y escáner TC de alta resolución que muestra micronódulos centrolobulillares, opacidades en vidrio deslustrado y engrosamiento peribronquial."},"it":{"name":"Bronchiolite respiratoria - pneumopatia interstiziale","synonyms":["RB-ILD"],"definition":"La bronchiolite respiratoria-pneumopatia interstiziale è una pneumopatia infiammatoria lieve che sviluppano i fumatori di sigarette, caratterizzata da respiro corto, tosse, anomalie della funzione polmonare della pneumopatia mista, ostruttiva e restrittiva, micronoduli centrolobulari rivelati dalla TAC ad alta risoluzione, opacità a vetro smerigliato e ispessimento peribronchiolare."},"nl":{"name":"Respiratoire bronchiolitis - interstitiële longziekte-syndroom","synonyms":["RB-ILD"],"definition":"Een milde inflammatoire aandoening van long bij sigaretrokers, gekenmerkt door kortademigheid en hoest, afwijkende longfunctie van gemengde restrictieve en obstructieve longziekte, en CT-scan van hoge resolutie die centrilobulaire micronoduli, matglas-opaciteiten en peribronchiolaire verdikking toont."},"pt":{"name":"Síndrome de bronquiolite respiratória-doença pulmonar intersticial","synonyms":["RB-ILD"]},"pl":{"name":"Zapalenie oskrzelików - śródmiąższowa choroba płuc","synonyms":["RB-ILD"]},"cs":{"name":"Syndrom zahrnující respirační bronchiolitidu a intersticiální plicní chorobu","synonyms":["RB-ILD"]},"uk":{"name":"Синдром респіраторного бронхіоліту-інтерстиціального захворювання легень","synonyms":["RB-ILD"],"definition":"Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening."},"zh":{"name":"呼吸性细支气管炎-间质性肺疾病综合征","synonyms":["RB-ILD"]},"tr":{"name":"Solunum bronşiyolit-interstisyel akciğer hastalığı sendromu","synonyms":["RB-ILD"]}},"xrefs":[{"source":"ICD-10","code":"J68.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB03.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"822500243"},{"source":"MONDO","code":"0019204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1735355","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066393","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":98300,"name":"Idiopathic interstitial pneumonia","classifications":[184,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-28","source":"25011486[PMID]_32551095[PMID]","terms":[{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002207","label":"Diffuse reticular or finely nodular infiltrations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025179","label":"Ground-glass opacification on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031996","label":"Inspiratory crackles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030877","label":"Reduced FEV1/FVC ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004469","label":"Chronic bronchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045051","label":"Decreased DLCO","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006516","label":"Hypersensitivity pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025175","label":"Honeycomb lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very rare (<4-1%)","criteria":null}]}}