{"orpha":105,"name":"Atresia of urethra","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Urethral atresia"],"definition":"A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting <i>in utero</i> as megacystis, oligohydramnios or anhydramnios, and potter sequence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-105/","orphanet_url":"https://www.orpha.net/en/disease/detail/105","names":{"fr":{"name":"Atrésie de l'urètre","synonyms":["Atrésie uréthrale"],"definition":"Obstruction sous-vésicale foetale rare caractérisée par l'obstruction ou l'absence de développement de l'orifice urétéral, entraînant une uropathie obstructive se présentant <i>in utero</i> sous la forme d'une mégavessie, d'un oligohydramnios ou d'un anhydramnios, et d'une séquence de Potter."},"de":{"name":"Atresie der Urethra","definition":"Eine seltene fetale Obstruktion der unteren Harnwege (LUTO), die durch den Verschluss oder die fehlende Entwicklung einer Harnröhrenöffnung gekennzeichnet ist und zu einer obstruktiven Uropathie führt, die sich <i>in utero</i> als Megazyste, Oligohydramnion oder Anhydramnion und Potter-Sequenz zeigt."},"es":{"name":"Atresia uretral","synonyms":["Atresia de la uretra"],"definition":"Es una obstrucción fetal del tracto urinario inferior LUTO; por sus siglas en inglés muy poco frecuente caracterizada por el cierre o la ausencia de desarrollo de una apertura en la uretra, lo que conduce a una uropatía obstructiva que se presenta intraútero como megavejiga, oligohidramnios o anhidramnios, y secuencia Potter."},"it":{"name":"Atresia dell'uretra","synonyms":["Atresia ureterale"],"definition":"L'atresia dell'uretra è un'ostruzione rara delle vie urinarie basse (LUTO) nel feto, caratterizzata dalla chiusura o dal mancato sviluppo di un orifizio nell'uretra, cha causa un'uropatia ostruttiva che si manifesta <i>in utero</i> con megacisti, oligoidramnios o anidramnios e sequenza di Potter."},"nl":{"name":"Atresie van urethra","synonyms":["Urethrale atresie"],"definition":"Een zeldzame foetale obstructie van onderste urinewegen (LUTO), gekarakteriseerd door sluiting van of gefaalde ontwikkeling van een opening in urethra, en resulterend in obstructieve uropathie die zich <i>in utero</i> presenteert als megacystis, oligohydramnion of anhydramnion, en Potter-sequentie."},"pt":{"name":"Atresia da uretra"},"pl":{"name":"Atrezja cewki moczowej","synonyms":["Urethral atresia"]},"cs":{"name":"Atrézie uretry","synonyms":["Uretrální atrézie"]},"uk":{"name":"Атрезія уретри","synonyms":["Атрезія уретри"],"definition":"A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting <i>in utero</i> as megacystis, oligohydramnios or anhydramnios, and potter sequence."},"zh":{"name":"尿道闭锁","synonyms":["尿道闭锁"]},"tr":{"name":"Üretra atrezisi","synonyms":["Üretral atrezi"]}},"xrefs":[{"source":"ICD-10","code":"Q64.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB31.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"630937425"},{"source":"MONDO","code":"0015195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345345","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064895","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435365,"name":"Fetal lower urinary tract obstruction","classifications":[147,156,185,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-12","source":"19551712[PMID]_32978001[PMID]_29980359[PMID]_8149156[PMID]","terms":[{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004321","label":"Bladder fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010955","label":"Dilatation of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000021","label":"Megacystis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010479","label":"Patent urachus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010444","label":"Pulmonary insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null}]}}