{"orpha":55881,"name":"Adamantinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adamantinoma of long bones"],"definition":"A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-55881/","orphanet_url":"https://www.orpha.net/en/disease/detail/55881","names":{"fr":{"name":"Adamantinome","synonyms":["Adamantinome des os longs"],"definition":"L'adamantinome est une tumeur maligne osseuse primaire de bas grade, survenant dans plus de 80% des cas sur la surface antérieure du tibia (diaphyse tibiale). La plupart des cas sont asymptomatiques, ou se manifestent par une douleur, un gonflement, une déformation en courbure ou une fracture pathologique. Des métastases peuvent s'observer, en particulier au niveau des poumons."},"de":{"name":"Adamantinom","synonyms":["Adamantinom der langen Knochen"]},"es":{"name":"Adamantinoma","synonyms":["Adamantinoma de huesos largos"],"definition":"Es un tumor óseo maligno primario de bajo grado poco frecuente que se desarrolla en más del 80% de los casos en la superficie anterior de la tibia (diáfisis tibial). La mayoría de los casos son sintomáticos o se presentan con dolor, hinchazón, deformidad por arqueamiento o fractura patológica. Se pueden observar metástasis, especialmente en los pulmones."},"it":{"name":"Adamantinoma"},"nl":{"name":"Adamantinoom","synonyms":["Adamantinoom van de lange beenderen"],"definition":"Een zeldzame, primaire, laaggradige maligne bottumor die in meer dan 80% van de gevallen vooraan op het scheenbeen voorkomt (diafyse van het scheenbeen). De meeste gevallen zijn symptomatisch of komen tot uiting met pijn, zwellingen, misvorming met kromstand of pathologische fractuur. Uitzaaiingen kunnen waargenomen worden, vooral in de longen."},"pt":{"name":"Adamantinoma"},"pl":{"name":"Szkliwiak","synonyms":["Adamantinoma of long bones"]},"cs":{"name":"Adamantinom","synonyms":["Adamantinoma of long bones"]},"uk":{"name":"Адамантинома","synonyms":["Адамантинома довгих кісток"],"definition":"A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed."},"zh":{"name":"釉质瘤","synonyms":["长骨成釉细胞瘤"]},"tr":{"name":"Adamantinom","synonyms":["Uzun kemiklerin adamantinoması"]}},"xrefs":[{"source":"OMIM","code":"102660","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C40.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2B5J","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2013322169"},{"source":"ICD-11","code":"XH8F52","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1203493632"},{"source":"MONDO","code":"0002422","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D050398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334556","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Worldwide","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null}]}}