{"orpha":1928,"name":"Congenital lobar emphysema","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital lobar hyperinflation","Infantile lobar hyperinflation"],"definition":"A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1928/","orphanet_url":"https://www.orpha.net/en/disease/detail/1928","names":{"fr":{"name":"Emphysème lobaire congénital","definition":"Malformation respiratoire rare caractérisée par une détresse respiratoire due à l'hyperinflation du ou des lobes pulmonaires affectés."},"de":{"name":"Emphysem, kongenitales lobäres","synonyms":["Kongenitale lobäre Überblähung"],"definition":"Das Kongenitale lobäre Emphysem (CLE) ist eine Anomalie der Atemwege und gekennzeichnet durch Atemnot bei starker Aufweitung eines oder mehrerer Lungenlappen."},"es":{"name":"Enfisema lobar congénito","synonyms":["Hiperinsuflación lobar congénita","Hiperinsuflación lobar infantil"],"definition":"Es una anomalía respiratoria caracterizada por distrés respiratorio debido a la hiperinsuflación de uno o más de los lóbulos pulmonares afectados."},"it":{"name":"Enfisema lobare congenito","synonyms":["Iperinflazione lobare congenita","Iperinflazione lobare infantile"],"definition":"Si tratta di un'anomalia dell'apparato respiratorio, caratterizzata da distress respiratorio secondario all'iperinflazione di uno o più lobi polmonari."},"nl":{"name":"Congenitaal lobair emfyseem","synonyms":["Congenitale lobaire hyperinflatie","Infantiele lobaire hyperinflatie"],"definition":"Een respiratoire afwijking gekarakteriseerd door ademnood als gevolg van hyperinflatie van een of meer aangetaste longkwabben."},"pt":{"name":"Enfisema lobar congénito"},"pl":{"name":"Wrodzona rozedma płatowa","synonyms":["Dziecięca rozstrzeń płatowa","Wrodzona rozstrzeń płatowa"]},"cs":{"name":"Vrozený lobární emfyzém","synonyms":["Vrozená lobární hyperinflace","Kojenecká lobární hyperinflace"]},"uk":{"name":"Вроджена лобарна емфізема","synonyms":["Вроджена лобарна гіперінфляція","Інфантильна лобарна гіперінфляція"],"definition":"A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung."},"zh":{"name":"先天性肺叶气肿","synonyms":["先天性肺叶气肿"]},"tr":{"name":"Doğumsal lober amfizem","synonyms":["İnfantil lober hiperinflasyon","Doğumsal lober hiperinflasyon"]}},"xrefs":[{"source":"OMIM","code":"130710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q33.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA75.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"685349915"},{"source":"MONDO","code":"0007536","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265797","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010456","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,156,186]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Worldwide","status":"Validated","source":"24068262[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24068262[PMID]_ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-18","source":"38584784[PMID]_34189102[PMID]","terms":[{"hpo":"HP:0002097","label":"Emphysema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000012","label":"Mediastinal shift","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null}]}}