ORPHA:220452
Isolated hereditary giant platelet disorder
Synonyms: Isolated hereditary macrothrombocytopenia · Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia
- 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 hereditary giant platelet disorder | Isolated hereditary macrothrombocytopenia · Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia |
| fr | Macrothrombocytopénie héréditaire isolée | |
| de | Giant-Platelet-Syndrom, isoliertes hereditäres | Makrothrombozytopenie, isolierte hereditäre |
| es | Trastorno aislado hereditario de las plaquetas gigantes | Macrotrombocitopenia heredada aislada · Macrotrombocitopenia hereditaria aislada |
| it | Disturbo ereditario delle piastrine giganti | Macrotrombocitopenia ereditaria |
| nl | Geïsoleerde erfelijke reuzenbloedplaatjesstoornis | Geïsoleerde erfelijke macrotrombocytopenie · Geïsoleerde overgeërfde macrotrombocytopenie · Geïsoleerde overgeërfde reuzenbloedplaatjesstoornis |
| pt | Doença hereditária das plaquetas gigantes | |
| pl | Izolowane dziedziczne zaburzenie z obecnością płytek olbrzymich | Izolowana wrodzona makrotrombocytopenia · Izolowana dziedziczna makrotrombocytopenia · Izolowane wrodzone zaburzenie z obecnością płytek olbrzymich |
| cs | Vrozená porucha obrovských krevních destiček | Vrozená makrotrombocytopenie |
| uk | Ізольована спадкова гігантська тромбоцитопенія | Ізольована спадкова макротромбоцитопенія · Ізольована спадкова гігантська тромбоцитопенія · Ізольована спадкова макротромбоцитопенія |
| zh | 孤立性遗传性巨血小板疾病 | 孤立性遗传性巨血小板疾病 |
| tr | İzole kalıtsal dev trombosit bozukluğu | İzole kalıtsal makrotrombositopeni · İzole kalıtsal makrotrombositopeni · İzole kalıtımsal dev trombosit bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 3B62.01 | E | specific | validated |
| MONDO | 16361 | E | validated | |
| UMLS | C5679822 | 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:477797Isolated constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
Children (6):
- ORPHA:98455Alpha granule disease
- ORPHA:140957Autosomal dominant macrothrombocytopenia
- ORPHA:274Bernard-Soulier syndrome
- ORPHA:438207Severe autosomal recessive macrothrombocytopenia
- ORPHA:67044Thrombocytopenia with congenital dyserythropoietic anemia
- ORPHA:363727X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
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/220452
- This record as JSON: /data/d/220452.json