{"orpha":480501,"name":"Choledochal cyst","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital cystic dilatation of the biliary tract"],"definition":"A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480501/","orphanet_url":"https://www.orpha.net/en/disease/detail/480501","names":{"fr":{"name":"Kyste du cholédoque","synonyms":["Dilatation kystique congénitale de la voie biliaire"],"definition":"Maladie rare des voies biliaires caractérisée par une dilatation congénitale fusiforme ou kystique des voies biliaires intra- et/ou extra-hépatiques. Les femmes sont beaucoup plus souvent affectées que les hommes. Les signes cliniques et les symptômes incluent des douleurs abdominales, un ictère, la présence d'une masse abdominale à la palpation, des nausées, des vomissements ou de la fièvre. Selon l'âge du patient, les complications sont la formation de calculs, une hépatomégalie, une péritonite biliaire par rupture, une cholangite, une cholécystite, des sténoses biliaires, une pancréatite ou une cirrhose biliaire secondaire. La maladie augmente considérablement le risque de développer un cancer, en particulier un cholangiocarcinome."},"de":{"name":"Choledochuszyste","synonyms":["Gallengangszyste","Kongenitale zystische Aussackung des Gallenganges"],"definition":"Eine seltene Erkrankung der Gallenwege, die durch eine angeborene fusiforme oder zystische Erweiterung der intra- und/oder extrahepatischen Gallengänge gekennzeichnet ist. Frauen sind viel häufiger betroffen als Männer. Zu den klinischen Anzeichen und Symptomen gehören Bauchschmerzen, Gelbsucht, das Vorhandensein einer tastbaren Gewebeverdichtung, Übelkeit, Erbrechen oder Fieber. Je nach Alter des Patienten kann die Erkrankung durch Steinbildung, Hepatomegalie, Ruptur mit anschließender Gallenperitonitis, Cholangitis, Cholezystitis, Gallengangstrikturen, Pankreatitis oder sekundäre biliäre Zirrhose kompliziert werden. Das Risiko einer bösartigen Erkrankung, insbesondere eines Cholangiokarzinoms, ist deutlich erhöht."},"es":{"name":"Quiste de colédoco","synonyms":["Dilatación quística congénita del tracto biliar"],"definition":"Es una enfermedad del tracto biliar poco frecuente caracterizada por dilatación quística o fusiforme congénita de los conductos biliares intra- y/o extrahepáticos. Las mujeres se ven afectadas con mucha más frecuencia que los hombres. Los signos y síntomas clínicos incluyen dolor abdominal, ictericia, presencia de una masa abdominal palpable, náuseas, vómitos o fiebre. Dependiendo de la edad del paciente, la condición puede complicarse por la formación de cálculos, hepatomegalia, rotura con peritonitis biliar posterior, colangitis, colecistitis, estenosis biliares, pancreatitis o cirrosis biliar secundaria. El riesgo de malignidad, en particular de colangiocarcinoma, está significativamente incrementado."},"it":{"name":"Cisti del coledoco","definition":"Si tratta di una malattia rara delle vie biliari, caratterizzata da una dilatazione fusiforme o cistica congenita delle vie biliari intra- e/o extraepatiche. Le femmine sono notevolmente più colpite. I segni clinici comprendono il dolore addominale, l'ittero, la presenza di una massa palpabile nell'addome, la nausea, il vomito e la febbre. A seconda dell'età del paziente, la malattia può associarsi a complicanze, quali la formazione di calcoli, l'epatomegalia, la rottura con conseguente peritonite biliare, la colangite, la colecistite, le stenosi biliari, la pancreatite e la cirrosi biliare secondaria. Si associa ad un rischio significativo di sviluppare un tumore maligno, in particolare il colangiocarcinoma."},"nl":{"name":"Choledochuscyste","synonyms":["Congenitale cystische dilatatie van de galwegen"],"definition":"Een zeldzame aandoening van galwegen, gekarakteriseerd door congenitale fusiforme of cystische dilatatie van intra- en/of extrahepatische galwegen. Vrouwen worden veel vaker getroffen dan mannen. Klinische tekenen en symptomen zijn onder meer abdominale pijn, geelzucht, aanwezigheid van een palpabele abdominale massa, misselijkheid, braken, en koorts. Afhankelijk van de leeftijd van de patiënt kan de ziekte gecompliceerd worden door steenvorming, hepatomegalie, ruptuur met daaropvolgend peritonitis door gal, cholangitis, cholecystitis, biliaire strictuur, pancreatitis, of secundaire biliaire cirrose. Het risico op maligniteit, vooral cholangiocarcinoom, is significant verhoogd."},"pt":{"name":"Quisto do colédoco"},"pl":{"name":"Torbiel przewodu żółciowego wspólnego","synonyms":["Wrodzone torbielowate poszerzenie przewodów żółciowych"]},"cs":{"name":"Cysta choledochu","synonyms":["Congenital cystic dilatation of the biliary tract","Vrozená cystická dilatace žlučových cest"]},"uk":{"name":"Кіста холедоха","synonyms":["Вроджене кістозне розширення жовчовивідних шляхів"],"definition":"A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased."},"zh":{"name":"胆总管囊肿","synonyms":["胆道先天性囊肿性扩张"],"definition":"一种罕见的胆道疾病，以肝内和（或）肝外胆管先天性梭形或囊性扩张为特征。女性比男性更常受影响。临床症状和体征包括腹痛、黄疸、可触及的腹部肿块、恶心、呕吐或发热。根据患者年龄的不同，可并发结石形成、肝肿大、破裂，继而发生胆汁性腹膜炎、胆管炎、胆囊炎、胆管狭窄、胰腺炎或继发性胆汁性肝硬化。恶性肿瘤，尤其是胆管癌的风险明显增加。"},"tr":{"name":"Koledok kisti","synonyms":["Safra yolunun doğumsal kistik dilatasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q44.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB20.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"819487805"},{"source":"MONDO","code":"0018805","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18805","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008340","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"32491694[PMID]_ORPHANET"}],"phenotypes":null}