{"orpha":96269,"name":"Isolated partial vaginal agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital absence of vagina"],"definition":"A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96269/","orphanet_url":"https://www.orpha.net/en/disease/detail/96269","names":{"fr":{"name":"Agénésie vaginale isolée partielle","synonyms":["Absence congénitale du vagin"],"definition":"L'agénésie vaginale isolée partielle est une malformation rare et non syndromique des voies uro-génitales. Elle se caractérise par l'absence de vagin, ou la présence d'une fossette vaginale mesurant moins de 5 cm. Elle est souvent associée à une agénésie utérine, un hématocolpos ou une aménorrhée primaire et une dyspareunie. Les ovaires et les trompes de Fallope sont normaux."},"de":{"name":"Vaginalagenesie, isolierte partielle","synonyms":["Vaginalaplasie","Vaginalaplasie, kongenitale"],"definition":"Die isolierte partielle Vaginalagenesie ist eine seltene, nicht-syndromale Fehlbildung des Urogenitaltrakts, die durch das Fehlen einer Vagina oder das Vorhandensein eines Vaginalgrübchens von weniger als 5 cm Länge gekennzeichnet ist. Sie ist häufig mit einer Uterusagenesie, Hämatokolpos oder primärer Amenorrhoe und Dyspareunie assoziiert. Eierstöcke und Eileiter sind normal ausgeprägt."},"es":{"name":"Agenesia vaginal parcial aislada","synonyms":["Ausencia congénita de vagina"],"definition":"Es una malformación urogenital no-sindrómica poco frecuente caracterizada por la ausencia de vagina o la presencia de un hoyuelo vaginal de menos de 5 cm. A menudo se asocia con agenesia uterina, hematocolpos o amenorrea primaria y dispareunia. Los ovarios y las trompas de Falopio son normales."},"it":{"name":"Agenesia parziale isolata della vagina","synonyms":["Assenza congenita della vagina","Assenza della vagina"],"definition":"L'agenesia isolata parziale della vagina è una malformazione rara non sindromica dell'apparato urogenitale; è caratterizzata dall'assenza della vagina o dalla presenza di una fossetta vaginale di lunghezza inferiore a 5 cm. Spesso si associa ad agenesia dell'utero, ematocolpo o amenorrea primaria e dispareunia. Le ovaie e le tube di Falloppio sono normali."},"nl":{"name":"Geïsoleerde partiële agenesie van vagina","synonyms":["Congenitale afwezigheid van vagina","Geïsoleerde partiële vaginale agenesie","Afwezigheid van vagina"],"definition":"Een zeldzame, niet-syndromale malformatie van urogenitaal stelsel, gekarakteriseerd door de afwezigheid van een vagina of de aanwezigheid van een vaginaal kuiltje korter dan 5 cm. De ziekte is vaak geassocieerd met agenesie van baarmoeder, hematocolpos of primaire amenorroe en dyspareunie. Ovaria en eileiders zijn normaal."},"pt":{"name":"Agenesia vaginal"},"pl":{"name":"Izolowana częściowa agnezja pochwy","synonyms":["Brak pochwy","Wrodzony brak pochwy"]},"cs":{"name":"Izolovaná částečná ageneze pochvy","synonyms":["Vrozené chybění pochvy"]},"uk":{"name":"Ізольована часткова вагінальна агенезія","synonyms":["Вроджена відсутність піхви"],"definition":"A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal."},"zh":{"name":"孤立型部分阴道发育不全","synonyms":["先天性阴道缺失"],"definition":"阴道畸形一种罕见的非综合征性泌尿生殖道畸形，特征是没有阴道或阴道凹陷小于5厘米，通常卵巢和输卵管正常。它常与子宫发育不全，出血或原发性闭经和性交困难有关。"},"tr":{"name":"İzole kısmi vajinal agenezi","synonyms":["Doğumsal vajina yokluğu"]}},"xrefs":[{"source":"ICD-10","code":"Q52.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB42.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"15782"},{"source":"MONDO","code":"0019932","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1261251","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180151,"name":"Rare vaginal malformation","classifications":[147,185,201,205,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Worldwide","status":"Validated","source":"33244332[PMID]_ORPHANET"}],"phenotypes":null}