{"orpha":424002,"name":"Squamous cell carcinoma of the rectum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rectal squamous cell carcinoma"],"definition":"A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424002/","orphanet_url":"https://www.orpha.net/en/disease/detail/424002","names":{"fr":{"name":"Carcinome épidermoïde du rectum","synonyms":["Carcinome épidermoïde rectal"],"definition":"Tumeur épithéliale rare du rectum, provenant des cellules squameuses de l'épithélium rectal, sans présence de voies fistuleuses à revêtement squameux dans le rectum ou d'extension proximale d'un cancer du col de l'utérus d'origine anale ou gynécologique. Les symptômes rapportés sont souvent non spécifiques, à savoir anorexie, perte de poids, douleurs dans la partie inférieure de l'abdomen, saignements rectaux et changements dans les habitudes intestinales."},"de":{"name":"Plattenepithelkarzinom des Rektums","synonyms":["Squamöses Karzinom des Rektums"],"definition":"Ein seltener epithelialer Tumor des Rektums, der aus Plattenepithelzellen im Rektumepithel entsteht, ohne dass es zu Plattenepithel-ausgekleideten Fistelgängen im Rektum oder einer proximalen Ausdehnung von Plattenepithelkarzinomen analen oder gynäkologischen Ursprungs kommt. Die berichteten Symptome sind oft unspezifisch, wie Anorexie, Gewichtsverlust, Unterleibsschmerzen, rektale Blutungen und Veränderungen der Stuhlgewohnheiten."},"es":{"name":"Carcinoma de células escamosas de recto","synonyms":["Carcinoma rectal de células escamosas"],"definition":"Es un tumor epitelial del recto poco frecuente que se origina en las células escamosas del epitelio rectal, sin la presencia de trayectos fistulosos recubiertos por epitelio escamoso en el recto o una extensión proximal de SCC de origen anal o ginecológico. Los síntomas reportados son a menudo inespecíficos (anorexia, pérdida de peso, dolor en la región inferior del abdomen, sangrado rectal y cambios en los hábitos intestinales)."},"it":{"name":"Carcinoma a cellule squamose del retto","synonyms":["Carcinoma rettale a cellule squamose"],"definition":"Il carcinoma a cellule squamose (SCC) del retto è un tumore epiteliale raro che origina dalle cellule squamose dell'epitelio rettale, in assenza di tratti fistolosi del retto rivestiti di cellule squamose o con estensione prossimale del SCC di origine anale o ginecologica. Spesso i sintomi sono aspecifici e comprendono l'anoressia, la perdita di peso, il dolore nella parte inferiore dell'addome, le emorragie rettali e i cambiamenti delle abitudini intestinali."},"nl":{"name":"Plaveiselcelcarcinoom van rectum","synonyms":["Plaveiselcelcarcinoom van endeldarm","Rectaal plaveiselcelcarcinoom"],"definition":"Een zeldzame epitheliale tumor van rectum, die ontstaat uit plaveiselcellen van rectaal epitheel, zonder aanwezigheid van fistuleuze, met plaveiselcellen beklede kanalen in rectum of een proximale uitbreiding van plaveiselcelcarcinoom (PCC) van anale of gynaecologische oorsprong. De gerapporteerde symptomen zijn vaak aspecifiek, zoals anorexie, gewichtsverlies, pijn aan onderste deel van abdomen, rectaal bloedverlies, en veranderingen van stoelgang."},"pt":{"name":"Carcinoma de células escamosas do reto"},"pl":{"name":"Rak płaskonabłonkowy odbytu","synonyms":["Rectal squamous cell carcinoma"]},"cs":{"name":"Dlaždicobuněčný karcinom rekta","synonyms":["Rektální dlaždicobuněčný karcinom"]},"uk":{"name":"Плоскоклітинний рак прямої кишки","synonyms":["Плоскоклітинний рак прямої кишки"],"definition":"A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits."},"zh":{"name":"直肠鳞状细胞癌","synonyms":["直肠鳞状细胞癌"],"definition":"直肠鳞状细胞癌（SCC）是一种罕见的直肠上皮肿瘤，来源于直肠上皮的鳞状细胞，在直肠中不存在鳞状瘘管或肛门或女性生殖系统的SCC的近端延伸。报告的症状通常是非特异性的，例如厌食，体重减轻，下腹痛，直肠出血和排便习惯改变。"},"tr":{"name":"Rektal Skuamöz Hücreli Karsinom","synonyms":["Rektal skuamöz hücreli karsinom"]}},"xrefs":[{"source":"ICD-10","code":"C20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B92.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018515","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1335690","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":423998,"name":"Rare epithelial tumor of rectum","classifications":[152,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.113,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.126,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.088,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.017,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.157,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.045,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.074,"area":"France","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.083,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.128,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.096,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.149,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.346,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.116,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.071,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.111,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.119,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.042,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.084,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.028,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.143,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}