{"orpha":477797,"name":"Isolated constitutional thrombocytopenia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Constitutional thrombocytopenia without extra-hematopoietic manifestations","Non-syndromic constitutional thrombocytopenia"],"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-477797/","orphanet_url":"https://www.orpha.net/en/disease/detail/477797","names":{"fr":{"name":"Thrombocytopénie constitutionnelle isolée","synonyms":["Thrombocytopénie constitutionnelle non-syndromique","Thrombocytopénie constitutionnelle sans manifestations extra-hématopoïétiques"]},"de":{"name":"Konstitutionelle Thrombozytopenie, isolierte","synonyms":["Konstitutionelle Thrombozytopenie ohne extra-hämatopoetische Manifestation","Konstitutionelle Thrombozytopenie, nicht-syndromale"]},"es":{"name":"Trombocitopenia constitucional aislada","synonyms":["Trombocitopenia constitucional sin manifestaciones extra-hematopoyéticas","Trombocitopenia constitucional no sindrómica"]},"it":{"name":"Trombocitopenia costituzionale isolata"},"nl":{"name":"Geïsoleerde constitutionele trombocytopenie","synonyms":["Constitutionele trombocytopenie zonder extra-hematopoëtische manifestatie","Niet-syndromale constitutionele trombocytopenie"]},"pt":{"name":"Trombocitopenia constitucional isolada"},"pl":{"name":"Izolowana małopłytkowość konstytucyjna","synonyms":["Constitutional thrombocytopenia without extra-hematopoietic manifestations","Non-syndromic constitutional thrombocytopenia"]},"cs":{"name":"Izolovaná konstituční trombocytopenie","synonyms":["Non-syndromic constitutional thrombocytopenia","Cconstitutional thrombocytopenia without extra-hematopoietic manifestation","Nesyndromická konstituční trombocytopenie","Konstituční trombocytopenie bez extrahematopoetických projevů"]},"uk":{"name":"Ізольована конституціональна тромбоцитопенія","synonyms":["Конституційна тромбоцитопенія без екстрагемопоетичних проявів","Несиндромна конституціональна тромбоцитопенія"]},"zh":{"name":"单发的先天性血小板减少症","synonyms":["先天性血小板减少症不合并血液系统外症状"]},"tr":{"name":"İzole yapısal trombositopeni","synonyms":["Sendromik olmayan yapısal trombositopeni","Ekstra hematopoetik belirtiler olmaksızın yapısal trombositopeni"]}},"xrefs":[{"source":"MONDO","code":"18796","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680102","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275729,"name":"Rare hemorrhagic disorder due to a constitutional thrombocytopenia","classifications":[156,194]}],"children":[{"orpha":466806,"name":"Autosomal dominant thrombocytopenia with platelet secretion defect","type":"Disease"},{"orpha":3319,"name":"Congenital amegakaryocytic thrombocytopenia","type":"Disease"},{"orpha":566192,"name":"Congenital autosomal recessive small-platelet thrombocytopenia","type":"Disease"},{"orpha":71290,"name":"Familial platelet disorder with associated myeloid malignancy","type":"Disease"},{"orpha":268322,"name":"Hereditary isolated thrombocytopenia with normal platelets size","type":"Disease"},{"orpha":248340,"name":"Isolated delta-storage pool disease","type":"Disease"},{"orpha":220452,"name":"Isolated hereditary giant platelet disorder","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}