{"orpha":93928,"name":"Isolated epispadias","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A subtype of exstrophy-epispadias complex (EEC) characterized in males by an open urethra on the dorsum of the penis and in females by a bifid clitoris and variable cleft of the urethra.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93928/","orphanet_url":"https://www.orpha.net/en/disease/detail/93928","names":{"fr":{"name":"Epispadias isolé","definition":"Sous-type du complexe d'exstrophie-épispade (CEE), caractérisé chez les hommes par un urètre ouvert sur le dos du pénis et chez les femmes par un clitoris bifide et une fente variable de l'urètre."},"de":{"name":"Epispadie, isolierte","definition":"Eine Subtyp des Exstrophie-Epispadie-Komplexes (EEC), der bei Jungen durch eine offene Harnröhre auf dem Penisrücken und bei Mädchen durch eine bifide Klitoris und eine variable Spaltung der Harnröhre gekennzeichnet ist."},"es":{"name":"Epispadias aislado","definition":"Es un subtipo del complejo extrofia-epispadias (CEE) que se caracteriza en los varones por una uretra abierta en el dorso del pene y, en las mujeres, por un clítoris bífido y una hendidura uretral variable."},"it":{"name":"Epispadia"},"nl":{"name":"Geïsoleerde epispadie","definition":"Een subtype van exstrofie - epispadie-complex (EEC), bij mannen gekenmerkt door een open urinebuis op de rugzijde van de penis en bij vrouwen door een bifide clitoris en variabele splijting van de urinebuis."},"pt":{"name":"Epispádia"},"pl":{"name":"Izolowane wierzchniactwo","definition":"Podtyp zespołu ekstrofii i wierzchniactwa charakteryzujący się u mężczyzn otwartą cewką moczową na grzbiecie prącia, a u kobiet rozdwojoną łechtaczką i zmiennym rozszczepem cewki moczowej."},"cs":{"name":"Epispadie"},"uk":{"name":"Ізольовані епіспадії","definition":"A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra."},"zh":{"name":"孤立型尿道上裂","definition":"一种先天性泌尿生殖系统畸形，属于膀胱外翻-尿道上裂复合畸形（EEC）谱系，其特征是男性阴茎背上有异位的尿道口或代替尿道的粘膜条，女性有阴蒂裂和可变的尿道裂。"},"tr":{"name":"İzole epispadias"}},"xrefs":[{"source":"ICD-10","code":"Q64.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB55","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"397402420"},{"source":"MONDO","code":"0019759","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004842","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014588","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015088","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":322,"name":"Exstrophy-epispadias complex","classifications":[147,156,182,185,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"19878548[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Europe","status":"Not yet validated","source":"19878548[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18314106[PMID]","terms":[{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030911","label":"Bifid clitoris","frequency":"Occasional (29-5%)","criteria":null}]}}