{"orpha":275736,"name":"Rare hemorrhagic disorder due to a qualitative platelet defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare bleeding disorder due to a constitutional thrombopathy","Rare bleeding disorder due to a qualitative platelet defect","Rare coagulopathy due to a constitutional thrombopathy","Rare coagulopathy due to a qualitative platelet defect","Rare hemorrhagic disorder due to a constitutional thrombopathy"],"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-275736/","orphanet_url":"https://www.orpha.net/en/disease/detail/275736","names":{"fr":{"name":"Maladie hémorragique rare par défaut qualitatif des plaquettes","synonyms":["Coagulopathie rare par défaut qualitatif des plaquettes","Coagulopathie rare par thrombopathie","Maladie hémorragique rare par thrombopathie"]},"de":{"name":"Seltene Blutgerinnungsstörung durch qualitativen Plättchen-Defekt","synonyms":["Seltene Blutungsstörung durch konstitutionelle Thrombopathie","Seltene Blutungsstörung durch qualitativen Plättchen-Defekt","Seltene Koagulopathie durch konstitutionelle Thrombopathie","Seltene Koagulopathie durch qualitativen Plättchen-Defekt"]},"es":{"name":"Trastorno hemorrágico raro por un defecto plaquetario cualitativo","synonyms":["Coagulopatía rara por trombopatía constitucional","Coagulopatía rara por un defecto plaquetario cualitativo","Trastorno hemorrágico raro por trombopatía constitucional","Trastorno raro de sangrado por un defecto plaquetario cualitativo"]},"it":{"name":"Disturbo emorragico raro da difetto dei recettori piastrinici","synonyms":["Coagulopatia rara da difetto dei recettori piastrinici"]},"nl":{"name":"Zeldzame hemorragische aandoening door kwalitatief bloedplaatjesdefect","synonyms":["Zeldzame bloedingsstoornis door constitutionele trombopathie","Zeldzame bloedingsstoornis door kwalitatief bloedplaatjesdefect","Zeldzame coagulopathie door constitutionele trombopathie","Zeldzame coagulopathie door kwalitatief bloedplaatjesdefect","Zeldzame hemorragische aandoening door constitutionele trombopathie"]},"pt":{"name":"Doença hemorrágica rara por defeito nos receptores de plaquetas"},"pl":{"name":"Rzadkie zaburzenia krzepnięcia spowodowane jakościową wadą płytek","synonyms":["Rzadka koagulopatia spowodowana konstytucjonalną trombopatią","Rzadka koagulopatia spowodowana jakościową wadą płytek","Rzadka skaza krwotoczna spowodowana konstytucjonalną trombopatią","Rzadka skaza krwotoczna spowodowana jakościową wadą płytek","Rzadkie zaburzenia krzepnięcia spowodowane konstytucjonalną trombopatią"]},"cs":{"name":"Vzácná hemoragická porucha způsobená poruchou destičkového receptoru","synonyms":["Vzácná krvácivá porucha způsobená poruchou destičkového receptoru","Vzácná koagulopatie způsobená poruchou destičkového receptoru"]},"uk":{"name":"Рідкісне геморагічне захворювання внаслідок дефекту якості тромбоцитів","synonyms":["Рідкісне порушення згортання крові внаслідок конституціональної тромбопатії","Рідкісне порушення згортання крові через якісний дефект тромбоцитів","Рідкісна коагулопатія внаслідок конституціональної тромбопатії","Рідкісна коагулопатія внаслідок якісного дефекту тромбоцитів","Рідкісне геморагічне захворювання внаслідок конституціональної тромбопатії"]},"zh":{"name":"血小板功能异常所致罕见出血性疾病","synonyms":["血小板功能异常所致罕见出血性疾病"]},"tr":{"name":"Niteliksel trombosit defektine bağlı nadir hemorajik bozukluk","synonyms":["Yapısal trombopatiye bağlı nadir koagülopati","Kalitatif trombosit defektine bağlı nadir koagülopati","Yapısal trombopatiye bağlı nadir kanama bozukluğu","Kalitatif trombosit defektine bağlı nadir kanama bozukluğu","Yapısal trombopatiye bağlı nadir hemorajik bozukluk"]}},"xrefs":[{"source":"MONDO","code":"17142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679758","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":71202,"name":"Rare hemorrhagic disorder due to a constitutional platelet anomaly","classifications":[156,194]}],"children":[{"orpha":73271,"name":"Bleeding diathesis due to a collagen receptor defect","type":"Disease"},{"orpha":728656,"name":"Bleeding diathesis due to thromboxane A2 receptor variants","type":"Disease"},{"orpha":420566,"name":"Bleeding disorder due to CalDAG-GEFI deficiency","type":"Disease"},{"orpha":36355,"name":"Bleeding disorder due to P2Y12 defect","type":"Disease"},{"orpha":477787,"name":"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","type":"Disease"},{"orpha":849,"name":"Glanzmann thrombasthenia","type":"Disease"},{"orpha":52530,"name":"Pseudo-von Willebrand disease","type":"Disease"},{"orpha":806,"name":"Scott syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}