{"orpha":180145,"name":"Uterine cervical aplasia and agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180145/","orphanet_url":"https://www.orpha.net/en/disease/detail/180145","names":{"fr":{"name":"Agénésie et aplasie du col de l'utérus","definition":"Malformation utérovaginale non syndromique rare caractérisée par une aplasie du col de l'utérus de degré variable, allant d'une agénésie complète à la présence du col avec un canal endocervical en cul-de-sac. Les patientes présentent généralement une aménorrhée primaire, des douleurs pelviennes ou abdominales cycliques, une dyspareunie et/ou des problèmes de fertilité."},"de":{"name":"Cervix uteri, Agenesie oder Aplasie"},"es":{"name":"Agenesia y aplasia de cuello de útero","definition":"Es una malformación uterovaginal no sindrómica y poco frecuente caracterizada por grados variables de aplasia cervical, que varía desde la agenesia completa hasta la presencia de un cuello uterino con un canal cervical que contiene un extremo ciego. Por lo general, las pacientes presentan amenorrea primaria, dolor abdominal o pélvico cíclico, dispareunia y/o problemas reproductivos."},"it":{"name":"Disgenesia e aplasia della cervice uterina","definition":"È una malformazione uterovaginale rara non sindromica, caratterizzata dall'aplasia della cervice uterina di grado variabile, che comprende l'agenesia completa fino alla cervice normo-sviluppata con canale chiuso nella parte terminale. Di solito le pazienti presentano amenorrea primaria, dolore addominale o pelvico ciclico, dispareunia e/o problemi riproduttivi."},"nl":{"name":"Agenesie en aplasie van cervix uteri","synonyms":["Agenesie en aplasie van baarmoederhals"],"definition":"Een zeldzame, niet-syndromale, uterovaginale malformatie die gekarakteriseerd wordt door variabele gradaties van aplasie van de baarmoederhals, gaande van volledige agenesie tot de aanwezigheid van een cervix met een cervicaal kanaal met een blind einde. Patiënten vertonen doorgaans primaire amenorroe, cyclische buik- of bekkenpijn, dyspareunie en/of voortplantingsproblemen."},"pt":{"name":"Aplasia e agenesia cervical uterina"},"pl":{"name":"Aplazja i agnezja szyjki macicy"},"cs":{"name":"Aplázie a ageneze hrdla děložního"},"uk":{"name":"Аплазія та агенезія шийки матки","definition":"A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems."},"zh":{"name":"子宫宫颈发育不全","definition":"宫颈发育不全和不发育是一种罕见的非综合征性子宫阴道畸形，其特征为不同程度的宫颈发育不全，从完全不发育到宫颈管存在一个盲端。患者通常表现为原发性闭经、周期性腹痛或盆腔痛、性交痛和（或）生殖问题。"},"tr":{"name":"Uterin servikal aplazi ve agenezisi"}},"xrefs":[{"source":"ICD-10","code":"Q51.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB43.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1670353767"},{"source":"MONDO","code":"0015845","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190813","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}