{"orpha":617,"name":"Congenital primary megaureter","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital primary megalo-ureter"],"definition":"A rare non-syndromic urogenital tract malformation characterized by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-617/","orphanet_url":"https://www.orpha.net/en/disease/detail/617","names":{"fr":{"name":"Méga-uretère primitif congénital","definition":"Anomalie non syndromique rare du développement du rein et des voies urinaires caractérisée par un uretère dilaté et une vessie et un col vésical normaux. Il peut être obstructif, avec reflux urinaires ou non obstructif et sans reflux urinaires."},"de":{"name":"Megaureter, kongenitaler primärer","definition":"Eine seltene nicht-syndromale Fehlbildung des Urogenitaltrakts, die durch einen erweiterten Harnleiter und eine normale Blase und Blasenausgang gekennzeichnet ist. Sie kann obstruiert sein, Reflux aufweisen oder unobstruiert sein und keinen Reflux aufweisen."},"es":{"name":"Megauréter congénito primario","synonyms":["Megalouréter congénito primario"],"definition":"Es una malformación poco frecuente y no sindrómica del tracto urogenital caracterizada por una dilatación primaria del uréter con una vejiga urinaria y su flujo de salida normales. Puede ser obstructivo, refluyente, o no obstructivo con ausencia de reflujo."},"it":{"name":"Megauretra primitiva congenita","synonyms":["Megalouretra primitiva congenita"]},"nl":{"name":"Congenitale primaire mega-ureter","synonyms":["Congenitale primaire megalo-ureter"],"definition":"Een zeldzame niet-syndromale malformatie van urogenitaal stelsel, gekenmerkt door dilatatie van ureter en normale blaas en blaasuitgang. Obstructie en reflux kunnen al dan niet optreden."},"pt":{"name":"Mega-ureter congénito","definition":"Malformação rara e não sindromática do trato urogenital caracterizada por um ureter dilatado e bexiga e saída vesical normais. Pode estar obstruído, com refluxo, ou não obstruído e sem refluxo."},"pl":{"name":"Wrodzona pierwotna cewka moczowa olbrzymia","synonyms":["Wrodzona pierwotna cewka moczowa olbrzymia"]},"cs":{"name":"Vrozený primární megaureter","synonyms":["Vrozený primární megaloureter"]},"uk":{"name":"Вроджений первинний мегауретер","synonyms":["Вроджена первинна мегалоуретра"],"definition":"A rare non-syndromic urogenital tract malformation characterized by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing."},"zh":{"name":"先天性原发性巨输尿管","synonyms":["先天性原发性巨输尿管"]},"tr":{"name":"Doğumsal primer megaüreter","synonyms":["Doğumsal primer megalo-üreter"]}},"xrefs":[{"source":"ICD-10","code":"Q62.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB31.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"566805920"},{"source":"MONDO","code":"0018960","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273898","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":101433,"name":"Rare urogenital disease"},"parents":[{"orpha":357506,"name":"Genetic non-syndromic renal or urinary tract malformation","classifications":[156]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]},{"orpha":182124,"name":"Non-syndromic urogenital tract malformation of male and female","classifications":[147,185,233]}],"children":[{"orpha":238654,"name":"Congenital primary megaureter, nonrefluxing and unobstructed form","type":"Clinical subtype"},{"orpha":238646,"name":"Congenital primary megaureter, obstructed form","type":"Clinical subtype"},{"orpha":544578,"name":"Congenital primary megaureter, refluxing and obstructed form","type":"Clinical subtype"},{"orpha":238650,"name":"Congenital primary megaureter, refluxing form","type":"Clinical subtype"},{"orpha":238642,"name":"Primary megaureter, adult-onset form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008676","label":"Congenital megaureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Occasional (29-5%)","criteria":null}]}}