{"orpha":213802,"name":"Rhabdomyosarcoma of the cervix uteri","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cervical rhabdomyosarcoma"],"definition":"Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-213802/","orphanet_url":"https://www.orpha.net/en/disease/detail/213802","names":{"fr":{"name":"Rhabdomyosarcome du col de l'utérus","synonyms":["Rhabdomyosarcome cervical"],"definition":"Le rhabdomyosarcome du col de l'utérus est un sarcome rare et très malin affectant les tissus mous du col de l'utérus. Il provient de cellules mésenchymateuses primaires présentant une différenciation en cellules de muscle lisse. Il se manifeste le plus souvent par des pertes vaginales anormales ou des saignements utérins anormaux, une douleur abdominale et/ou une masse cervicale dépassant au niveau du vagin. Une association avec le syndrome DICER1 a été rapportée."},"de":{"name":"Rhabdomyosarkom der Cervix uteri","synonyms":["Rhabdomyosarkom, zervikales"],"definition":"Das Rhabdomyosarkom der Cervix uteri ist ein seltenes, hochmalignes Weichteilsarkom, das im Gebärmutterhals lokalisiert ist und aus primitiven mesenchymalen Zellen mit Skelettmuskeldifferenzierung entsteht. Es präsentiert sich meist mit abnormalem vaginalem Ausfluss oder dysfunktionalen uterinen Blutungen, Unterleibsschmerzen und/oder einer zervikalen Masse, die in die Vagina ragt. Es wurde über eine Assoziation mit dem DICER1-Syndrom berichtet."},"es":{"name":"Rabdomiosarcoma de cuello de útero","synonyms":["Rabdomiosarcoma cervical"],"definition":"El rabdomiosarcoma del cuello uterino es un sarcoma de tejidos blandos, altamente maligno y poco frecuente, localizado en el cuello uterino y que se origina de las células mesenquimales primitivas mostrando grados variables de diferenciación de músculo esquelético. Con mayor frecuencia se presenta con flujo vaginal anómalo o sangrado uterino disfuncional, dolor abdominal y/o masa cervical que se introduce en la vagina. Se ha descrito asociación con el síndrome DICER1."},"it":{"name":"Rabdomiosarcoma della cervice uterina","synonyms":["Rabdomiosarcoma cervicale"],"definition":"Il rabdomiosarcoma della cervice uterina è un sarcoma del tessuto molle raro e altamente maligno; si localizza nella cervice uterina e origina dalle cellule mesenchimali primitive a differenziazione muscolare striata. Di solito esordisce con perdite vaginali anomale o emorragie uterine disfunzionali, dolore addominale e/o con la presenza di una massa cervicale che sporge nella vagina. Può associarsi alla sindrome DICER1."},"nl":{"name":"Rhabdomyosarcoom van cervix uteri","synonyms":["Cervicaal rhabdomyosarcoom","Rhabdomyosarcoom van baarmoederhals"],"definition":"Rhabdomyosarcoom van de baarmoederhals is een zeldzaam, zeer maligne wekedelensarcoom dat zich situeert in de baarmoederhals en ontstaat uit primitieve mesenchymale cellen die skeletspierdifferentiatie vertonen. In de meeste gevallen uit de ziekte zich met abnormale vaginale afscheiding of disfunctionele baarmoederbloeding, buikpijn en/of een cervicaal gezwel dat uitsteekt in de vagina. Er werd associatie met DICER1-syndroom gerapporteerd."},"pt":{"name":"Rabdomiossarcoma do colo do útero"},"pl":{"name":"Mięsak prążkowanokomórkowy szyjki macicy","synonyms":["Mięsak prążkowanokomórkowy szyjki"]},"cs":{"name":"Rhabdomyosarkom hrdla děložního","synonyms":["Cervikální rhabdomyosarkom"]},"uk":{"name":"Рабдоміосаркома шийки матки","synonyms":["Рабдоміосаркома шийки матки"],"definition":"Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported."},"zh":{"name":"子宫颈横纹肌肉瘤","synonyms":["宫颈横纹肌肉瘤"],"definition":"子宫颈横纹肌肉瘤是一种罕见的高度恶性的子宫颈软组织肉瘤，起源于骨骼肌分化的原始间充质细胞。本病通常表现为异常阴道分泌物或功能失调性子宫出血、腹痛和/或突出阴道的宫颈肿块。曾报道与DICER1综合征相关。"},"tr":{"name":"Rahim ağzı uteri rabdomyosarkomu","synonyms":["Servikal rabdomyosarkom"]}},"xrefs":[{"source":"ICD-10","code":"C53.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C53.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C53.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B55.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1097772105"},{"source":"MONDO","code":"0016282","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4289809","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":213797,"name":"Sarcoma of cervix uteri","classifications":[202,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":null}