{"orpha":180142,"name":"Absence of uterine body","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180142/","orphanet_url":"https://www.orpha.net/en/disease/detail/180142","names":{"fr":{"name":"Absence du corps de l'utérus","definition":"Malformation utérovaginale non syndromique rare caractérisée par un développement insuffisant de l'utérus, allant de l'absence totale à la présence de cornes rudimentaires bilatérales avec ou sans cavité. Les patientes présentent généralement une aménorrhée primaire, des douleurs abdominales/pelviennes et/ou une infertilité."},"de":{"name":"Uterusagenesie oder -aplasie"},"es":{"name":"Ausencia del cuerpo uterino","definition":"Es una malformación utero-vaginal no sindrómica y poco frecuente caracterizada por un útero con poco desarrollo, que varía desde la ausencia completa hasta la presencia de cuernos uterinos rudimentarios bilaterales con o sin una cavidad. Las pacientes suelen presentar amenorrea primaria, dolor abdominal/ pélvico y/o infertilidad."},"it":{"name":"Agenesia e aplasia del corpo dell'utero","definition":"È una malformazione utero-vaginale non sindromica rara, caratterizzata da iposviluppo dell'utero, che varia dall'agenesia fino alla presenza di corna rudimentali con o senza cavità. Di solito le pazienti presentano amenorrea primaria, dolore addominale/pelvico e/o infertilità."},"nl":{"name":"Afwezigheid van corpus uteri","synonyms":["Afwezigheid van baarmoederlichaam"],"definition":"Een zeldzame, niet-syndromale, uterovaginale malformatie die gekarakteriseerd wordt door onderontwikkeling van de baarmoeder, gaande van volledige afwezigheid tot de aanwezigheid van bilaterale rudimentaire horens met of zonder een holte. Patiënten vertonen meestal primaire amenorroe, abdominale/pelviene pijn en/of onvruchtbaarheid."},"pt":{"name":"Agenesia e aplasia do corpo uterino"},"pl":{"name":"Agnezja i aplazja trzonu macicy"},"cs":{"name":"Ageneze a aplázie těla dělohy"},"uk":{"name":"Відсутність тіла матки","definition":"A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility."},"zh":{"name":"子宫体缺失","definition":"子宫体缺失症是一种罕见的非综合征性子宫阴道畸形，其特征为子宫发育不全，表现为子宫体完全缺失或双侧残角子宫伴或不伴子宫体。患者通常出现原发性闭经、腹部/盆腔痛和（或）不孕。"},"tr":{"name":"Uterin gövdesi yokluğu"}},"xrefs":[{"source":"ICD-10","code":"Q51.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB44.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"25664922"},{"source":"MONDO","code":"0015844","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15844","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5230999","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180065,"name":"Non-syndromic uterovaginal malformation","classifications":[147,185,205,233]},{"orpha":399882,"name":"Rare female infertility due to an implantation defect","classifications":[201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}