{"orpha":248361,"name":"Rare thrombotic disorder due to a constitutional coagulation factors defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-248361/","orphanet_url":"https://www.orpha.net/en/disease/detail/248361","names":{"fr":{"name":"Maladie thrombotique rare par déficit constitutionnel en facteurs de coagulation"},"de":{"name":"Seltene thrombotische Störung durch konstitutionellen Gerinnungsfaktoren-Defekt"},"es":{"name":"Enfermedad trombótica rara por un defecto constitucional de los factores de coagulación"},"it":{"name":"Disturbo trombotico raro da difetto costituzionale dei fattori di coagulazione"},"nl":{"name":"Zeldzame trombotische stoornis als gevolg van een constitutionele coagulatiefactordefect"},"pt":{"name":"Doença trombótica rara por defeito constitucional dos fatores de coagulação"},"pl":{"name":"Rzadkie zaburzenie krzepnięcia z powodu konstytucyjnego defektu czynników krzepnięcia"},"cs":{"name":"Vzácné trombotické poruchy způsobené defektem konstitučních koagulačních faktorů"},"uk":{"name":"Рідкісний тромботичний розлад, зумовлений конституціональним дефектом факторів згортання крові"},"zh":{"name":"先天性凝血因子缺陷导致的罕见血栓性疾病"},"tr":{"name":"Yapısal pıhtılaşma faktörleri defektlerine bağlı nadir trombotik bozukluk"}},"xrefs":[{"source":"MONDO","code":"16633","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680691","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":183654,"name":"Rare genetic coagulation disorder","classifications":[156]},{"orpha":248358,"name":"Rare thrombotic disorder due to a coagulation factors defect","classifications":[194]}],"children":[{"orpha":330,"name":"Congenital factor XII deficiency","type":"Disease"},{"orpha":3324,"name":"Familial thrombomodulin anomalies","type":"Disease"},{"orpha":83639,"name":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","type":"Disease"},{"orpha":217454,"name":"Rare hereditary thrombophilia","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}