{"orpha":693863,"name":"Splenic arteriovenous malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arteriovenous malformation of the spleen"],"definition":"A rare visceral arteriovenous malformation characterized by abnormal communication between splenic artery and the splenic vein at the level of the splenic hilum. These malformations may lead to the formation of splenic artery aneurysms that can rupture. Clinical features include abdominal pain, hematemesis, melena, diarrhea, and portal hypertension due to venous congestion. The spleen is typically enlarged with extensive areas of infarction and dilated vessels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-693863/","orphanet_url":"https://www.orpha.net/en/disease/detail/693863","names":{"fr":{"name":"Malformation artérioveineuse splénique","synonyms":["Malformation artérioveineuse de la rate","Malformation artérioveineuse des vaisseaux spléniques"],"definition":"Malformation artérioveineuse viscérale rare caractérisée par une communication anormale entre l'artère splénique et la veine splénique au niveau du hile splénique. Ces malformations peuvent entraîner la formation d'anévrismes de l'artère splénique susceptibles de se rompre. Les signes cliniques comprennent des douleurs abdominales, une hématémèse, un méléna, une diarrhée et une hypertension portale due à une congestion veineuse. La rate, généralement hypertrophiée, présente de vastes zones d'infarctus et de vaisseaux dilatés."},"de":{"name":"Splenische arteriovenöse Fehlbildung","synonyms":["Arteriovenöse Fehlbildung der Milz"],"definition":"Eine seltene viszerale arteriovenöse Fehlbildung, die durch eine abnormale Verbindung zwischen der Milzarterie und der Milzvene auf Höhe des Milzhilus gekennzeichnet ist. Diese Fehlbildungen können zur Bildung von Milzarterienaneurysmen führen, die reißen können. Zu den klinischen Symptomen zählen Bauchschmerzen, Hämatemesis, Meläna, Durchfall und portale Hypertonie aufgrund venöser Stauung. Die Milz ist in der Regel vergrößert und weist ausgedehnte Infarktbereiche und erweiterte Gefäße auf."},"es":{"name":"Malformación arteriovenosa esplénica","synonyms":["Malformación arteriovenosa del bazo"],"definition":"Es una malformación arteriovenosa visceral poco frecuente caracterizada por una comunicación anómala entre la arteria y la vena esplénicas a nivel del hilio esplénico. Estas malformaciones pueden provocar la formación de aneurismas de la arteria esplénica con riesgo de ruptura. Las características clínicas incluyen dolor abdominal, hematemesis, melena, diarrea e hipertensión portal debido a la congestión venosa. El bazo suele estar agrandado con extensas áreas de infarto y dilatación de vasos."},"it":{"name":"Malformazione arterovenosa splenica","synonyms":["Malformazione arterovenosa della milza"]},"nl":{"name":"Arterioveneuze malformatie van milt","synonyms":["Splenische vasculaire malformatie"],"definition":"Een zeldzame viscerale arterioveneuze malformatie, gekenmerkt door abnormale communicatie tussen arteria splenica/lienalis (miltslagader) en vena splenica/lienalis (miltvene) ter hoogte van de milthilus. Deze malformaties kunnen leiden tot de vorming van aneurysmata van de miltslagader die kunnen scheuren. Klinische kenmerken zijn onder meer abdominale pijn, hematemese, melena, diarree, en portale hypertensie door veneuze stuwing. De milt is doorgaans vergroot met uitgebreide gebieden van infarct en verwijde vaten."},"pt":{"name":"Malformação arteriovenosa esplénica","synonyms":["Malformação arteriovenosa do baço"]},"pl":{"name":"Malformacja tętniczo-żylna śledziony","synonyms":["Arteriovenous malformation of the spleen"]},"cs":{"name":"Splenic arteriovenous malformation","synonyms":["Arteriovenous malformation of the spleen"]}},"xrefs":[{"source":"ICD-10","code":"Q27.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,182,233]},{"orpha":693855,"name":"Visceral fast-flow vascular malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}