{"orpha":180160,"name":"Transverse vaginal septum","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180160/","orphanet_url":"https://www.orpha.net/en/disease/detail/180160","names":{"fr":{"name":"Vagin cloisonné transversal","synonyms":["Diaphragme vaginal"],"definition":"Malformation vaginale rare caractérisée par la présence d'une cloison transversale complète ou incomplète pouvant être située à tout niveau du vagin (le plus souvent le tiers supérieur ou moyen), résultant d'une migration incomplète des canaux de Müller vers le sinus urogénital du vagin pendant l'embryogenèse. À moins de provoquer un hydromucocolpos important, cette malformation n'est que rarement diagnostiquée chez les nouveau-nés ou les nourrissons. Les cloisonnements complets se manifestent par une aménorrhée primaire, des douleurs pelviennes cycliques, une dyspareunie ou une masse pelvienne constituée de sang menstruel accumulé, tandis que les cloisonnements incomplets peuvent entraîner une dyspareunie et une dysménorrhée."},"de":{"name":"Vaginalseptum, transversales","definition":"Eine seltene Fehlbildung der Vagina, die durch ein vollständiges oder unvollständiges transversales Septum in jeder Ebene der Vagina (am häufigsten im oberen oder mittleren Drittel) gekennzeichnet ist und durch eine unvollständige Fusion zwischen dem Ductus mesonephricus und dem Sinus urogenitalis der Vagina während der Embryogenese entsteht. Die Erkrankung wird selten bei Neugeborenen oder Kleinkindern diagnostiziert, es sei denn, sie verursacht einen signifikanten Hydromukokolpos. Vollständige Septen führen zu primärer Amenorrhoe, zyklischen Beckenschmerzen, Dyspareunie oder Gewebsverdickungen im Becken, die durch angesammeltes Menstruationsblut entstehen, während unvollständige Septen Dyspareunie und Dysmenorrhoe verursachen können."},"es":{"name":"Septo vaginal transverso","definition":"Es una malformación poco frecuente de la vagina caracterizada por la presencia de un septo transverso completo o incompleto a distintos niveles de la vagina (con mayor frecuencia en el tercio superior o medio), como resultado de una fusión incompleta del componente de los conductos de Müller y del seno urogenital de la vagina durante la embriogénesis. La entidad sólo se diagnostica en recién nacidos o lactantes de manera excepcional, a menos que cause hidromucocolpos significativo. El septo completo se presenta con amenorrea primaria, dolor pélvico cíclico, dispareunia o una masa pélvica consistente en sangre menstrual acumulada, mientras que los septos incompletos pueden provocar dispareunia y dismenorrea."},"it":{"name":"Setto vaginale trasversale","definition":"Si tratta di una malformazione rara della vagina, caratterizzata dalla presenza di un setto trasversale completo o incompleto a qualsiasi livello della vagina (più spesso nel terzo superiore o nel terzo medio), dovuto alla fusione incompleta tra i dotti mülleriani e il seno urogenitale della vagina durante l'embriogenesi. La diagnosi nel periodo neonatale o infantile è rara, a meno che la malformazione non causi un idromucocolpo significativo. I setti completi si associano ad amenorrea primitiva, dolore pelvico ciclico, dispareunia o alla presenza di una massa pelvica costituita da sangue mestruale accumulato; i setti incompleti possono causare dispareunia e dismenorrea."},"nl":{"name":"Dwars vaginaal septum","definition":"Een zeldzame malformatie van vagina, gekarakteriseerd door aanwezigheid van een volledig of onvolledig transversaal septum in om het even welk deel van vagina (meestal bovenste of middelste derde deel), als gevolg van onvolledige fusie tussen de component van gang van Müller en de component van urogenitale sinus van vagina tijdens embryogenese. De aandoening wordt maar zelden gediagnosticeerd bij neonaten of zuigelingen, tenzij het significante hydrocolpos/mucocolpos veroorzaakt. Volledige septa presenteren zich met primaire amenorroe, cyclische pijn in bekken, dyspareunie, of een pelviene massa bestaande uit geaccumuleerd menstruatiebloed, terwijl onvolledige septa kunnen leiden tot dyspareunie en dysmenorroe."},"pt":{"name":"Septo vaginal transverso"},"pl":{"name":"Przegroda poprzeczna pochwy"},"cs":{"name":"Transverzální poševní septum"},"uk":{"name":"Поперечна перегородка піхви","definition":"A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea."},"zh":{"name":"阴道横膈"},"tr":{"name":"Enine vajinal septum"}},"xrefs":[{"source":"ICD-10","code":"Q52.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB42.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1265288464"},{"source":"MONDO","code":"0015850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856006","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180154,"name":"Septate vagina","classifications":[147,185,201,205,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}