{"orpha":142,"name":"Anaplastic thyroid carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-142/","orphanet_url":"https://www.orpha.net/en/disease/detail/142","names":{"fr":{"name":"Cancer anaplasique de la thyroïde","definition":"Les cancers anaplasiques de la thyroïde représentent la forme finale de dédifférenciation des tumeurs thyroïdiennes de souche folliculaire et sont l'un des cancers les plus graves chez l'être humain."},"de":{"name":"Schilddrüsenkarzinom, anaplastisches","definition":"Eine Erkrankung, die den letzten Schritt der Entdifferenzierung in der Tumorgenese der Schilddrüse darstellt und eine der schwerwiegendsten Krebsarten beim Menschen ist."},"es":{"name":"Carcinoma anaplásico de tiroides","definition":"Es un trastorno que representa la etapa final de desdiferenciación de tumorigénesis tiroidea y uno de los cánceres más agresivos para los humanos."},"it":{"name":"Carcinoma anaplasico della tiroide"},"nl":{"name":"Anaplastisch schildkliercarcinoom","definition":"Een aandoening die de laatste stap van dedifferentiatie van tumorigenese van de schildklier vertegenwoordigt en een van de meest ernstige kankers bij mensen."},"pt":{"name":"Cancro anaplásico da tiroide"},"pl":{"name":"Rak anaplastyczny tarczycy"},"cs":{"name":"Anaplastický karcinom štítné žlázy"},"uk":{"name":"Анапластична карцинома щитовидної залози","definition":"A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans."},"zh":{"name":"甲状腺未分化癌"},"tr":{"name":"Anaplastik tiroid karsinomu"}},"xrefs":[{"source":"ICD-10","code":"C73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2D10.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"320540024"},{"source":"MONDO","code":"0006468","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"6468","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238461","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"664","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002240","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100088,"name":"Rare thyroid carcinoma","classifications":[193,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe 2011[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"European Medicines Agency 2004[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-13","source":"11061600[PMID]_22869844[PMID]_11742333[PMID]_3967175[PMID]_9737368[PMID]","terms":[{"hpo":"HP:0011779","label":"Anaplastic thyroid carcinoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005994","label":"Nodular goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004894","label":"Laryngotracheal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011805","label":"Abnormal skeletal muscle morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100836","label":"Malignant neoplasm of the central nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Very rare (<4-1%)","criteria":null}]}}