{"orpha":313906,"name":"Congenital pancreatic cyst","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal congenital pancreatic cyst","True congenital pancreatic cyst"],"definition":"A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313906/","orphanet_url":"https://www.orpha.net/en/disease/detail/313906","names":{"fr":{"name":"Kyste pancréatique congénital","synonyms":["Kyste congénital vrai du pancréas","Kyste pancréatique congénital néonatal"],"definition":"Maladie pancréatique rare caractérisée par une lésion kystique le plus souvent isolée, uniloculaire, à paroi mince, qui peut être située à tout endroit du pancréas (on la trouve plus fréquemment dans le corps et la queue) et qui ne communique pas avec le système canalaire pancréatique. Les patients peuvent être asymptomatiques ou manifester des signes et des symptômes d'obstruction gastro-intestinale ou biliaire, ou de pancréatite. La maladie peut être isolée ou survenir en association avec d'autres maladies (telles que la maladie de von Hippel-Lindau ou la polykystose rénale)."},"de":{"name":"Pankreaszysten, kongenitale","synonyms":["Pankreaszysten, echte kongenitale","Pankreaszysten, kongenitale neonatale"],"definition":"Eine seltene Bauchspeicheldrüsenerkrankung, die durch eine meist einzelne, unilokuläre, dünnwandige zystische Läsion gekennzeichnet ist, die sich überall in der Bauchspeicheldrüse befinden kann (aber häufiger im Körper und im Schwanz zu finden ist) und nicht mit dem Pankreasgangsystem kommuniziert. Die Patienten können asymptomatisch sein oder Anzeichen und Symptome einer gastrointestinalen oder biliären Obstruktion oder einer Pankreatitis aufweisen. Die Erkrankung kann isoliert oder in Verbindung mit anderen Anomalien (wie der von-Hippel-Lindau-Krankheit oder der polyzystischen Nierenerkrankung) auftreten."},"es":{"name":"Quiste pancreático congénito","synonyms":["Quiste pancreático congénito neonatal","Quiste verdadero congénito del páncreas"],"definition":"Es una enfermedad pancreática poco frecuente caracterizada por una lesión quística de paredes delgadas, unilocular y, por lo general, aislada, que puede estar localizada en cualquier parte del páncreas (aunque afecta con mayor frecuencia al cuerpo y la cola), sin comunicación con el sistema ductal pancreático. Los pacientes pueden permanecer asintomáticos o presentarse con signos y síntomas de obstrucción gastrointestinal o biliar o de pancreatitis. El trastorno puede presentarse como un hallazgo aislado o asociado otras anomalías (tales como la enfermedad de von Hippel-Lindau o la enfermedad renal poliquística)."},"it":{"name":"Cisti pancreatica congenita","synonyms":["Cisti pancreatica congenita neonatale","Cisti pancreatica congenita vera"],"definition":"Si tratta di una malattia rara del pancreas, caratterizzata da una lesione cistica di solito singola, uniloculare, con pareti sottili, che può localizzarsi ovunque all'interno del pancreas (in genere prediligendo il corpo e la coda) e che non comunica con il sistema duttale pancreatico. I pazienti possono essere asintomatici o presentare i sintomi secondari all'ostruzione gastrointestinale o biliare, o alla pancreatite. La malattia può essere isolata o associarsi ad altre anomalie (malattia di von Hippel-Lindau o rene policistico)."},"nl":{"name":"Congenitale cyste van pancreas","synonyms":["Echte congenitale cyste van pancreas","Neonatale congenitale cyste van pancreas"],"definition":"Een zeldzame aandoening van pancreas, gekarakteriseerd door een doorgaans enkelvoudige, uniloculaire, dunwandige cystische laesie die eender waar in de pancreas kan voorkomen (maar vaker wordt aangetroffen in lichaam en staart van pancreas) en die niet communiceert met afvoergangen van pancreas. Patiënten kunnen asymptomatisch zijn, of zich presenteren met verschijnselen en symptomen van gastro-intestinale of biliaire obstructie, of pancreatitis. De aandoening kan geïsoleerd voorkomen, of in associatie met andere anomalieën (zoals ziekte van von Hippel-Lindau of polycystische nierziekte)."},"pt":{"name":"Quisto pancreático congénito","synonyms":["Quisto pancreático congénito neonatal","Quisto pancreático verdadeiramente congénito"]},"pl":{"name":"Wrodzona torbiel trzustki","synonyms":["Noworodkowa wrodzona torbiel trzustki","Prawdziwa wrodzona torbiel trzustki"]},"cs":{"name":"Vrozené cysty pankreatu","synonyms":["Neonatální vrozené pankreatické cysty","Pravé vrozené pankreatické cysty"]},"uk":{"name":"Вроджена кіста підшлункової залози","synonyms":["Неонатальна вроджена кіста підшлункової залози","Істинна вроджена кіста підшлункової залози"],"definition":"A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease)."},"zh":{"name":"先天性胰腺囊肿","synonyms":["新生儿先天性胰腺囊肿"]},"tr":{"name":"Doğumsal pankreas kisti","synonyms":["Gerçek doğumsal pankreas kisti","Yenidoğan doğumsal pankreas kisti"]}},"xrefs":[{"source":"ICD-10","code":"Q45.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"981856956"},{"source":"MONDO","code":"0017783","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0341480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":506216,"name":"Rare disorder potentially indicated for bowel transplant","classifications":[233]},{"orpha":101937,"name":"Rare pancreatic disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"19231513[PMID]_2202976[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-30","source":"27088671[PMID]_19231513[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}