{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare bleeding disorder due to a constitutional coagulation factors defect","Rare coagulopathy due to a constitutional coagulation factors defect"],"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-68334/","orphanet_url":"https://www.orpha.net/en/disease/detail/68334","names":{"fr":{"name":"Maladie hémorragique rare par déficit constitutionnel en facteurs de coagulation","synonyms":["Coagulopathie rare par déficit constitutionnel en facteurs de coagulation"]},"de":{"name":"Seltene Blutgerinnungsstörung durch konstitutionellen Gerinnungsfaktoren-Defekt"},"es":{"name":"Trastorno hemorrágico raro por un defecto constitucional de factores de coagulación","synonyms":["Coagulopatía rara por un defecto constitucional de factores de coagulación","Trastorno raro de sangrado por un defecto constitucional de los factores de coagulación"]},"it":{"name":"Disturbo emorragico raro da difetto costituzionale dei fattori della coagulazione","synonyms":["Coagulopatia rara da difetto costituzionale dei fattori della coagulazione"]},"nl":{"name":"Zeldzame hemorragische stoornis als gevolg van een constitutionele coagulatiefactordefect","synonyms":["Zeldzame bloedingsstoornis als gevolg van een constitutionele coagulatiefactorendefect","Zeldzame coagulopathie als gevolg van constitutionele coagulatiefactorendefect"]},"pt":{"name":"Doença hemorragica rara devida a defeito constitucional de factores de coagulação","synonyms":["Coagulopatia rara devida a defeito constitucional de factores de coagulação"]},"pl":{"name":"Rzadkie skazy krwotoczne spowodowane defektami czynników krzepnięcia","synonyms":["Rare bleeding disorder due to a constitutional coagulation factors defect","Rzadkie koagulopatie spowodowane defektami czynników krzepnięcia"]},"cs":{"name":"Vzácná hemoragická porucha způsobená konstituční poruchou koagulačních faktorů","synonyms":["Vzácná krvácivá porucha způsobená konstituční poruchou koagulačních faktorů","Vzácná koagulopatie způsobená konstituční poruchou koagulačních faktorů"]},"uk":{"name":"Рідкісне геморагічне захворювання, зумовлене конституційним дефектом факторів згортання крові","synonyms":["Рідкісне порушення згортання крові внаслідок конституціонального дефекту факторів згортання","Рідкісна коагулопатія внаслідок конституціонального дефекту факторів згортання крові"]},"zh":{"name":"凝血因子缺陷所致罕见出血性疾病","synonyms":["体质性凝血因子所致所致罕见凝血病"]},"tr":{"name":"Yapısal pıhtılaşma faktörleri defektine bağlı nadir hemorajik bozukluk","synonyms":["Yapısal pıhtılaşma faktörleri defektine bağlı nadir kanama bozukluğu","Yapısal pıhtılaşma faktörleri defektine bağlı nadir koagülopati"]}},"xrefs":[{"source":"MONDO","code":"19039","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680146","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":248315,"name":"Rare hemorrhagic disorder due to a coagulation factors defect","classifications":[194]}],"children":[{"orpha":35909,"name":"Combined deficiency of factor V and factor VIII","type":"Disease"},{"orpha":600691,"name":"Combined deficiency of factor VII and factor X","type":"Disease"},{"orpha":79,"name":"Congenital alpha2-antiplasmin deficiency","type":"Disease"},{"orpha":326,"name":"Congenital factor V deficiency","type":"Disease"},{"orpha":329,"name":"Congenital factor XI deficiency","type":"Disease"},{"orpha":331,"name":"Congenital factor XIII deficiency","type":"Disease"},{"orpha":335,"name":"Congenital fibrinogen deficiency","type":"Disease"},{"orpha":483,"name":"Congenital high-molecular-weight kininogen deficiency","type":"Disease"},{"orpha":465,"name":"Congenital plasminogen activator inhibitor type 1 deficiency","type":"Disease"},{"orpha":749,"name":"Congenital prekallikrein deficiency","type":"Disease"},{"orpha":169826,"name":"Congenital vitamin K-dependent coagulation factors deficiency","type":"Category"},{"orpha":599519,"name":"Factor V short isoforms-related bleeding disorder","type":"Disease"},{"orpha":448,"name":"Hemophilia","type":"Clinical group"},{"orpha":178396,"name":"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation","type":"Disease"},{"orpha":722,"name":"Hypoplasminogenemia","type":"Disease"},{"orpha":3151,"name":"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome","type":"Disease"},{"orpha":436169,"name":"Thrombomodulin-related bleeding disorder","type":"Disease"},{"orpha":903,"name":"Von Willebrand disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}