ORPHA:477797
Isolated constitutional thrombocytopenia
Synonyms: Constitutional thrombocytopenia without extra-hematopoietic manifestations · Non-syndromic constitutional thrombocytopenia
- Type
- Category
- Group
- Group of disorders
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated constitutional thrombocytopenia | Constitutional thrombocytopenia without extra-hematopoietic manifestations · Non-syndromic constitutional thrombocytopenia |
| fr | Thrombocytopénie constitutionnelle isolée | Thrombocytopénie constitutionnelle non-syndromique · Thrombocytopénie constitutionnelle sans manifestations extra-hématopoïétiques |
| de | Konstitutionelle Thrombozytopenie, isolierte | Konstitutionelle Thrombozytopenie ohne extra-hämatopoetische Manifestation · Konstitutionelle Thrombozytopenie, nicht-syndromale |
| es | Trombocitopenia constitucional aislada | Trombocitopenia constitucional sin manifestaciones extra-hematopoyéticas · Trombocitopenia constitucional no sindrómica |
| it | Trombocitopenia costituzionale isolata | |
| nl | Geïsoleerde constitutionele trombocytopenie | Constitutionele trombocytopenie zonder extra-hematopoëtische manifestatie · Niet-syndromale constitutionele trombocytopenie |
| pt | Trombocitopenia constitucional isolada | |
| pl | Izolowana małopłytkowość konstytucyjna | = en |
| cs | Izolovaná konstituční trombocytopenie | Non-syndromic constitutional thrombocytopenia · Cconstitutional thrombocytopenia without extra-hematopoietic manifestation · Nesyndromická konstituční trombocytopenie · Konstituční trombocytopenie bez extrahematopoetických projevů |
| uk | Ізольована конституціональна тромбоцитопенія | Конституційна тромбоцитопенія без екстрагемопоетичних проявів · Несиндромна конституціональна тромбоцитопенія |
| zh | 单发的先天性血小板减少症 | 先天性血小板减少症不合并血液系统外症状 |
| tr | İzole yapısal trombositopeni | Sendromik olmayan yapısal trombositopeni · Ekstra hematopoetik belirtiler olmaksızın yapısal trombositopeni |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18796 | E | validated | |
| UMLS | C5680102 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:275729Rare hemorrhagic disorder due to a constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
Children (7):
- ORPHA:466806Autosomal dominant thrombocytopenia with platelet secretion defect
- ORPHA:3319Congenital amegakaryocytic thrombocytopenia
- ORPHA:566192Congenital autosomal recessive small-platelet thrombocytopenia
- ORPHA:71290Familial platelet disorder with associated myeloid malignancy
- ORPHA:268322Hereditary isolated thrombocytopenia with normal platelets size
- ORPHA:248340Isolated delta-storage pool disease
- ORPHA:220452Isolated hereditary giant platelet disorder
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477797
- This record as JSON: /data/d/477797.json