{"orpha":93109,"name":"Congenital megacalycosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93109/","orphanet_url":"https://www.orpha.net/en/disease/detail/93109","names":{"fr":{"name":"Mégacalicose congénitale","definition":"La mégacalicose congénitale est une malformation rénale rare caractérisée par la dilatation non obstructive des calices rénaux, ainsi que par un nombre calicéal augmenté (12-20), avec une vessie, un pelvis rénal et un uretère normaux. La mégacalicose congénitale peut être unilatérale ou bilatérale. Elle est généralement asymptomatique sauf en cas de complication par une néphrolithiase et une infection des voies urinaires."},"de":{"name":"Megakalikose, kongenitale"},"es":{"name":"Megacalicosis congénita","definition":"Es una malformación renal poco frecuente caracterizada por una dilatación no obstructiva de los cálices renales, así como por un número de cálices aumentado (12-20), con una pelvis renal, uréter y vejiga, normales. Puede ser uni- o bilateral y, por lo general, es asintomática, a menos que se complique con nefrolitiasis e infección del tracto urinario."},"it":{"name":"Megacalicosi congenita","definition":"La megacalicosi congenita è una malformazione renale rara, caratterizzata dalla dilatazione non ostruttiva dei calici renali e da un loro aumento numerico (12-20); la pelvi renale, l'uretere e la vescica sono normali. La malattia può essere mono- o bilaterale e di solito è asintomatica, a meno che non insorgano complicanze come la nefrolitiasi e le infezioni delle vie urinarie."},"nl":{"name":"Congenitale megacalycosis","definition":"Congenitale megacalycosis is een zeldzame niermalformatie die gekarakteriseerd wordt door niet-obstructieve dilatatie van de nierkelken alsook een verhoogd aantal calices (12-20), met een normaal nierbekken en normale urineleider en blaas. Het kan uni- of bilateraal zijn en is meestal asymptomatisch, tenzij complicaties optreden door nefrolithiasis en infecties van het urinewegstelsel."},"pt":{"name":"Megacalicose congénita"},"pl":{"name":"Wrodzone poszerzenie kielichów nerek"},"cs":{"name":"Vrozená dilatace renálních kalichů"},"uk":{"name":"Вроджений мегакалікоз","definition":"Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection."},"zh":{"name":"先天性巨肾盏","definition":"先天性巨肾盏是一种罕见的肾脏畸形，其特征是肾盏无阻塞性扩张，肾盏数目增加（12-20），肾盂、输尿管和膀胱均正常。它可能是单侧或双侧的，除非合并肾结石和尿路感染，否则通常无症状。"},"tr":{"name":"Doğumsal megakalikoz"}},"xrefs":[{"source":"ICD-10","code":"Q63.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB31.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"954627950"},{"source":"MONDO","code":"0019639","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5545379","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[{"orpha":93177,"name":"Congenital bilateral megacalycosis","type":"Clinical subtype"},{"orpha":93176,"name":"Unilateral congenital megacalycosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"23252475[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23252475[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-06","source":"16293636[PMID]","terms":[{"hpo":"HP:0100581","label":"Dilatation of renal calices","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012211","label":"Abnormal renal physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006000","label":"Ureteral obstruction","frequency":"Excluded (0%)","criteria":null}]}}