{"orpha":890,"name":"Hepatic veno-occlusive disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sinusoidal obstruction syndrome"],"definition":"A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-890/","orphanet_url":"https://www.orpha.net/en/disease/detail/890","names":{"fr":{"name":"Maladie veino-occlusive hépatique","synonyms":["Syndrome d'obstruction sinusoïdale"],"definition":"Maladie hépatique vasculaire rare caractérisée par une atteinte des capillaires sinusoïdes hépatiques d'origine toxique, entraînant une obstruction des petites veines hépatiques et des sinusoïdes hépatiques. Les signes cliniques sont une hépatomégalie douloureuse, un ictère, et une rétention d'eau se traduisant par une prise de poids, un oedème et une ascite."},"de":{"name":"Lebervenen-Verschlusskrankheit","synonyms":["Sinusoidales Obstruktionssyndrom"],"definition":"Eine seltene vaskuläre Lebererkrankung, die durch eine toxische Schädigung der hepatischen Sinusoidalkapillaren gekennzeichnet ist und zu einer Obstruktion der kleinen Lebervenen und -sinusoide führt. Zu den klinischen Manifestationen gehören schmerzhafte Hepatomegalie, Gelbsucht und Flüssigkeitsretention, die sich durch Gewichtszunahme, Ödeme und Aszites äußert."},"es":{"name":"Enfermedad veno-oclusiva hepática","synonyms":["Síndrome de obstrucción sinusoidal"],"definition":"Es una enfermedad vascular del hígado poco frecuente caracterizada por una lesión tóxica de los capilares sinusoidales hepáticos que conduce a la obstrucción de las venas hepáticas pequeñas y de los sinusoides. Las manifestaciones clínicas incluyen hepatomegalia dolorosa, ictericia y retención de líquidos que se manifiesta como aumento de peso, edemas y ascitis."},"it":{"name":"Malattia veno-occlusiva epatica","synonyms":["Sindrome da ostruzione dei sinusoidi"],"definition":"Si tratta di una malattia vascolare epatica rara, caratterizzata da un danno tossico dei capillari sinusoidali epatici, che causa l'ostruzione delle piccole vene epatiche e dei sinusoidi. I segni clinici comprendono l'epatomegalia dolorosa, l'ittero e la ritenzione dei liquidi, che si manifesta con un aumento di peso, edema e ascite."},"nl":{"name":"Veno-occlusieve ziekte van lever","synonyms":["Sinusoïdale obstructie-syndroom"],"definition":"Een zeldzame vasculaire aandoening van lever, gekenmerkt door toxisch letsel van sinusoïdale capillairen van lever dat leidt tot obstructie van kleine leveraders en -sinusoïden. Klinische manifestaties zijn onder meer pijnlijke hepatomegalie, geelzucht, en vochtretentie die zich manifesteert met gewichtstoename, oedeem, en ascites."},"pt":{"name":"Doença veno-oclusiva hepática","definition":"Doença hepática vascular rara caracterizada por lesão tóxica dos capilares sinusoidais hepáticos que origina obstrução das pequenas veias hepáticas e sinusóides. As manifestações clínicas incluem hepatomegália dolorosa, icterícia e retenção de líquidos que se manifesta por ganho de peso, edemas e ascite."},"pl":{"name":"Choroba zarostowa żył wątrobowych","synonyms":["Zespół niedrożności zatok wątrobowych"]},"cs":{"name":"Jaterní žilní okluze","synonyms":["Syndrom sinusoidální obstrukce","Venookluzivní choroba jater","Syndrom jaterní sinusoidální obstrukce","Sinusoidální obstrukční syndrom"]},"uk":{"name":"Печінкова венооклюзивна хвороба","synonyms":["Синдром синусоїдальної обструкції"],"definition":"A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites."},"zh":{"name":"肝静脉闭塞性疾病","synonyms":["肝窦阻塞综合征"]},"tr":{"name":"Hepatik veno-okluzif hastalık","synonyms":["Sinüzoidal tıkanma sendromu"]}},"xrefs":[{"source":"ICD-10","code":"K76.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"DB98.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"762044088"},{"source":"MONDO","code":"0019514","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006504","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019156","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13004","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10047216","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101938,"name":"Rare vascular liver disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"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":"2017-01-16","source":"21656652[PMID]_26412181[PMID]_25300869[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003573","label":"Increased total bilirubin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}