{"orpha":180139,"name":"Uterine hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180139/","orphanet_url":"https://www.orpha.net/en/disease/detail/180139","names":{"fr":{"name":"Hypoplasie utérine","definition":"Malformation urogénitale congénitale rare caractérisée par un utérus de petite taille et de forme régulière (hypoplasie utérine simple), un utérus de forme allongé avec un fond normal (hypoplasie utérine allongée) ou un utérus de forme anormale (hypoplasie utérine malformative). Les symptômes peuvent inclure aménorrhée primaire, douleurs abdominales et infertilité."},"de":{"name":"Uterushypoplasie","definition":"Eine seltene angeborene Fehlbildung des Urogenitaltrakts, die durch einen kleinen Uterus mit regelmäßiger Form (einfache Uterushypoplasie), einen verlängerten Uterus mit normalem Fundus (verlängerte Uterushypoplasie) oder einen abnormal geformten Uterus (malformative Uterushypoplasie) gekennzeichnet ist. Zu den Symptomen können primäre Amenorrhoe, Unterleibsschmerzen und Unfruchtbarkeit gehören."},"es":{"name":"Hipoplasia uterina","definition":"Es una malformación del tracto urogenital, congénita y poco frecuente, caracterizada por un útero pequeño de forma regular (útero hipoplásico simple), un útero alargado con fondo normal (útero hipoplásico alargado) o un útero de forma anómala (hipoplásico malformado). Los síntomas pueden incluir amenorrea primaria, dolor abdominal e infertilidad."},"it":{"name":"Ipoplasia dell'utero","definition":"Si tratta di una malformazione congenita rara dell'apparato urogenitale, caratterizzata da un utero di piccole dimensioni e di forma regolare (ipoplasia uterina semplice), da un utero di forma allungata con fondo normale (ipoplasia uterina allungata), o da un utero di forma anomala (ipoplasia uterina malformativa). I sintomi comprendono l'amenorrea primaria, il dolore addominale e l'infertilità."},"nl":{"name":"Hypoplasie van uterus","synonyms":["Hypoplasie van baarmoeder","Uteriene hypoplasie"],"definition":"Een zeldzame, congenitale malformatie van urogenitaal stelsel, gekarakteriseerd door een kleine baarmoeder met een normale vorm (eenvoudige uteriene hypoplasie), een langwerpige baarmoeder met normale fundus (langwerpige uteriene hypoplasie), of een abnormaal gevormde baarmoeder (malformatieve uteriene hypoplasie). Mogelijke symptomen zijn onder meer primaire amenorroe, abdominale pijn, en onvruchtbaarheid."},"pt":{"name":"Hipoplasia uterina"},"pl":{"name":"Hipoplazja macicy"},"cs":{"name":"Hypoplázie dělohy"},"uk":{"name":"Гіпоплазія матки","definition":"A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility."},"zh":{"name":"子宫发育不全","definition":"子宫发育不全是一种罕见的先天性泌尿生殖道畸形，其主要临床表现为形状规则的小型子宫（单纯子宫发育不良）、具有正常子宫底的细长子宫（细长子宫发育不良）或形状异常的子宫（畸形子宫发育不良）。症状可能包括原发性闭经、腹痛和不孕。"},"tr":{"name":"Uterin hipoplazisi"}},"xrefs":[{"source":"ICD-10","code":"Q51.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB44.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1858530341"},{"source":"MONDO","code":"0015843","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266399","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063146","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}