{"orpha":693839,"name":"Renal arteriovenous malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arteriovenous malformation of the kidney","rAVM"],"definition":"A rare visceral arteriovenous malformation characterized by abnormal communications between renal arteries and the venous system. Most cases are asymptomatic but patients may present with clinical symptoms including hematuria, nausea, lumbar and abdominal pain, hypertension, cardiomegaly and high output heart failure. This type of malformation is more commonly reported in females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-693839/","orphanet_url":"https://www.orpha.net/en/disease/detail/693839","names":{"fr":{"name":"Malformation artérioveineuse rénale","definition":"Malformation artérioveineuse viscérale rare caractérisée par une communication anormale entre les artères rénales et le système veineux. La plupart des cas sont asymptomatiques, mais certains patients peuvent présenter des signes cliniques de type hématurie, nausées, douleurs lombaires et abdominales, hypertension, cardiomégalie et insuffisance cardiaque à haut débit. Ce type de malformation est plus fréquemment décrit chez les femmes."},"de":{"name":"Renale arteriovenöse Fehlbildung","synonyms":["Arteriovenöse Fehlbildung der Nieren","rAVM"],"definition":"Eine seltene viszerale arteriovenöse Fehlbildung, die durch abnormale Verbindungen zwischen den Nierenarterien und dem Venensystem gekennzeichnet ist. Die meisten Fälle sind asymptomatisch, aber bei Patienten können klinische Symptome wie Hämaturie, Übelkeit, Lenden- und Bauchschmerzen, Bluthochdruck, Kardiomegalie und High-Output-Herzinsuffizienz auftreten. Diese Art von Fehlbildung tritt häufiger beim weiblichen Geschlecht auf."},"es":{"name":"Malformación arteriovenosa renal","synonyms":["MAV renal","Malformación arteriovenosa del riñón"],"definition":"Es una malformación arteriovenosa visceral poco frecuente caracterizada por comunicaciones anómalas entre las arterias renales y el sistema venoso. La mayoría de los pacientes permanecen asintomáticos, pero en algunos casos pueden presentar síntomas clínicos como hematuria, náuseas, dolor lumbar y abdominal, hipertensión, cardiomegalia e insuficiencia cardíaca de alto gasto. Este tipo de malformación se describe con mayor frecuencia en mujeres."},"it":{"name":"Malformazione arterovenosa renale","synonyms":["Malformazione arterovenosa del rene","rAVM"]},"nl":{"name":"Arterioveneuze malformatie van nier","synonyms":["RAVM","Renale arterioveneuze malformatie"],"definition":"Een zeldzame viscerale arterioveneuze malformatie, gekenmerkt door abnormale verbindingen tussen nierslagaders en het veneuze systeem. De meeste gevallen zijn asymptomatisch, maar patiënten presenteren zich mogelijk met klinische symptomen waaronder hematurie, misselijkheid, lumbale en abdominale pijn, hypertensie, cardiomegalie en hartfalen met verhoogd hartminuutvolume. Dit type van malformatie wordt vaker gerapporteerd bij vrouwen."},"pt":{"name":"Malformação arteriovenosa renal","synonyms":["Malformação arteriovenosa do rim","rAVM"]},"pl":{"name":"Malformacja tętniczo-żylna nerki","synonyms":["Arteriovenous malformation of the kidney","rAVM"]},"cs":{"name":"Renal arteriovenous malformation","synonyms":["Arteriovenous malformation of the kidney","rAVM"]}},"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":93618,"name":"Rare cause of hypertension","classifications":[188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":693855,"name":"Visceral fast-flow vascular malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}