{"orpha":228116,"name":"Hughes-Stovin syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228116/","orphanet_url":"https://www.orpha.net/en/disease/detail/228116","names":{"fr":{"name":"Syndrome de Hughes-Stovin","definition":"Le syndrome de Hughes-Stovin (SHS) est une affection rare à haut risque vital considéré comme une forme clinique vasculaire de maladie de Behçet. Il est caractérisé par l'association d'anévrismes artériels pulmonaires (AAP) multiples et de thromboses veineuses périphériques."},"de":{"name":"Hughes-Stovin-Syndrom","definition":"Das Hughes-Stovin-Syndrom (HSS) ist eine lebensbedrohliche Erkrankung, die als klinische kardiovaskuläre Variante der Behçet-Krankheit (BD; s. dort) angesehen wird. Das HSS ist gekennzeichnet durch die Assoziation multipler Aneurysmen der Lungenarterien (PAAs) und peripherer venöser Thrombose."},"es":{"name":"Síndrome de Hughes-Stovin","definition":"El síndrome de Hughes-Stovin (SHS) es una enfermedad potencialmente mortal, considerada la manifestación de una variante clínica cardiovascular de la enfermedad de Behçet (EB; consulte este término). Se caracteriza por la asociación de aneurismas múltiples de la arteria pulmonar (AAPs) y trombosis venosa periférica."},"it":{"name":"Sindrome di Hughes-Stovin","definition":"La sindrome di Hughes-Stovin (HSS) è una malattia potenzialmente fatale, che è considerata una variante clinica cardiovascolare della malattia di Behçet (BD; si veda questo termine). È caratterizzata dall'associazione tra aneurismi multipli delle arterie polmonari (PAA) e la trombosi venosa periferica."},"nl":{"name":"Hughes-Stovinsyndroom","definition":"Hughes-Stovinsyndroom (HSS) is een levensbedreigende aandoening, waarvan wordt aangenomen dat het om een cardiovasculaire klinische variante gaat van de ziekte van Behçet (BD; zie deze term). Ze is gekenmerkt door de associatie van meerdere aneurysmata van de longslagader (PAA's) en perifere veneuze trombose."},"pt":{"name":"Síndrome de Hughes-Stovin","definition":"A síndrome de Hughes-Stovin (HSS) é uma doença potencialmente fatal, que se acredita ser uma variante clínica cardiovascular da doença de Behçet (BD; ver este termo). É caracterizada pela associação de múltiplos aneurismas da artéria pulmonar (PAA) e trombose venosa periférica."},"pl":{"name":"Zespół Hughesa i Stovina"},"cs":{"name":"Hughesův-Stovinův syndrom","synonyms":["Hughes-Stovinův syndrom"]},"uk":{"name":"Синдром Хьюза-Стовіна","definition":"Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis."},"zh":{"name":"Hughes-Stovin综合征","definition":"Hughes-Stovin综合征（HSS）是一种危及生命的疾病，被认为是Behþet's病（BD；见该词条）的心血管临床表现的变异。其特点是多发性肺动脉瘤（PAAs）和周围静脉血栓形成。"},"tr":{"name":"Hughes-Stovin sendromu"}},"xrefs":[{"source":"ICD-10","code":"I28.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A44.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1047123748"},{"source":"MONDO","code":"0016425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156140,"name":"Predominantly large-vessel vasculitis","classifications":[196,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"21489283[PMID]_15696563[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","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:0006543","label":"Cardiorespiratory arrest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004937","label":"Pulmonary artery aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null}]}}