{"orpha":488,"name":"Urachal cyst","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488/","orphanet_url":"https://www.orpha.net/en/disease/detail/488","names":{"fr":{"name":"Kyste de l'ouraque","synonyms":["Kyste ouraquien"],"definition":"Anomalie congénitale de l'ouraque caractérisée par un défaut d'oblitération de l'ouraque, dont les deux extrémités fermées délimitent une partie centrale restée perméable. Elle est généralement asymptomatique mais peut être révélée par une complication telle que l'infection, se présentant sous la forme d'une masse située dans la région ombilicale, accompagnée de douleurs abdominales et de fièvre."},"de":{"name":"Urachuszyste"},"es":{"name":"Quiste uracal","definition":"Es una anomalía congénita del uraco que se caracteriza por un fallo en el cierre completo del uraco, en el que ambos extremos están cerrados mientras que la luz central permanece abierta. Por lo general es asintomático, pero puede llegar a ser clínicamente significativo cuando se infecta, presentándose como una masa en la región umbilical acompañada de dolor abdominal y fiebre."},"it":{"name":"Cisti dell'uraco","definition":"La cisti dell'uraco è un'anomalia congenita dell'uraco (si veda questo termine) caratterizzata dalla chiusura incompleta dell'uraco (le due estremità risultano chiuse, mentre il lume centrale rimane pervio). Di solito la cisti è asintomatica ma diventa significativa dal punto di vista clinico nel caso di infezioni, quando si riscontra una massa nella regione ombelicale, associata a dolore addominale e febbre."},"nl":{"name":"Urachuscyste","definition":"Urachale cyste is een congenitale urachale anomalie (zie deze term) die gekarakteriseerd wordt door het niet volledig sluiten van de urachus, waarbij de beide uiteinden gesloten zijn maar het centrale lumen open blijft. De cyste is doorgaans asymptomatisch maar kan klinisch significant worden in geval van infectie, en zich presenteren als een massa in de umbilicale regio die gepaard gaat met buikpijn en koorts."},"pt":{"name":"Quísto do úraco"},"pl":{"name":"Torbiel moczownika"},"cs":{"name":"Cysta urachu"},"uk":{"name":"Кіста сечового міхура","definition":"Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever."},"zh":{"name":"脐尿管囊肿"},"tr":{"name":"Uraki kisti"}},"xrefs":[{"source":"ICD-10","code":"Q64.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB03.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1125432593"},{"source":"MONDO","code":"0018844","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014496","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0041915","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5425","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065375","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435743,"name":"Congenital urachal anomaly","classifications":[147,185,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["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":"2021-08-31","source":"32347613[PMID]_33039342[PMID]_30271532[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025615","label":"Abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012085","label":"Pyuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100525","label":"Urachus fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Very rare (<4-1%)","criteria":null}]}}