{"orpha":2414,"name":"Congenital pulmonary lymphangiectasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pulmonary lymphangiomatosis"],"definition":"A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2414/","orphanet_url":"https://www.orpha.net/en/disease/detail/2414","names":{"fr":{"name":"Lymphangiectasie pulmonaire congénitale","synonyms":["Lymphangiomatose pulmonaire"],"definition":"La lymphangiectasie pulmonaire (LP) est une altération du développement pulmonaire rare caractérisée par des dilatations lymphatiques subpleurales, interlobaires, périvasculaires et péribronchiques."},"de":{"name":"Lymphangiektasie, pulmonale, kongenitale","synonyms":["Lymphangiomatose, pulmonale"],"definition":"Eine seltener Entwicklungsdefekt der Lungen, der durch eine Erweiterung der subpleuralen, interlobären, perivaskulären und peribronchialen Lymphgefäße der Lunge gekennzeichnet ist."},"es":{"name":"Linfangiectasias quísticas pulmonares","synonyms":["Linfangiomatosis pulmonar"],"definition":"Es un trastorno poco frecuente del desarrollo que afecta a los pulmones. Está caracterizado por una dilatación linfática pulmonar de localización subpleural, interlobular, perivascular y peribronquial."},"it":{"name":"Linfangectasia polmonare","synonyms":["Linfangectasie polmonari cistiche","Linfangiomatosi polmonare"]},"nl":{"name":"Congenitale pulmonale lymfangiëctasie","synonyms":["Pulmonale lymfangiomatose"],"definition":"Een zeldzame ontwikkelingsstoornis met betrokkenheid van long, gekarakteriseerd door dilatatie van subpleurale, interlobulaire, perivasculaire, en peribronchiale lymfeklieren bij de longen."},"pt":{"name":"Linfangiectasia pulmonar congénita","synonyms":["Linfangiectasia quística pulmonar","Linfangiomatose pulmonar"]},"pl":{"name":"Wrodzona limfangiektazja płuc","synonyms":["Limfangiomatoza płucna"]},"cs":{"name":"Vrozená plicní lymfangiektázie","synonyms":["Plicní lymfangiomatóza"]},"uk":{"name":"Вроджена легенева лімфангіектазія","synonyms":["Лімфангіоматоз легень"],"definition":"A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation."},"zh":{"name":"先天性肺淋巴管扩张症","synonyms":["肺淋巴管瘤病"]},"tr":{"name":"Doğumsal pulmoner lenfanjiektazi","synonyms":["Pulmoner lenfanjiyomatoz"]}},"xrefs":[{"source":"OMIM","code":"265300","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2069435755"},{"source":"MONDO","code":"0009933","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537727","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849554","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9900","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":264683,"name":"Primary interstitial lung disease specific to childhood due to alveolar vascular disorder","classifications":[184,233]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ISBN:019974808X[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011852","label":"Chylopericardium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null}]}}