ORPHA:248401
Rare thrombotic disorder due to a constitutional platelet anomaly
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare thrombotic disorder due to a constitutional platelet anomaly | |
| fr | Maladie thrombotique rare par anomalie constitutionnelle des plaquettes | |
| de | Seltene thrombotische Störung durch konstitutionelle Blutplättchenanomalie | |
| es | Enfermedad trombótica rara por anomalía constitucional de las plaquetas | |
| it | Disturbo trombotico raro da difetto piastrinico costituzionale | |
| nl | Zeldzame trombotische stoornis als gevolg van een constitutionele bloedplaatjesanomalie | |
| pt | Doença trombótica rara por anomalia constitucional das plaquetas | |
| pl | Rzadkie zaburzenie krzepnięcia z powodu konstytucjonalnej anomalii płytek krwi | |
| cs | Vzácná trombotická vada z konstituční poruchy destiček | |
| uk | Рідкісний тромботичний розлад, зумовлений конституційною аномалією тромбоцитів | |
| zh | 先天性血小板异常所致罕见性血栓性疾病 | |
| tr | Yapısal trombosit anomalisine bağlı nadir trombotik bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16636 | E | validated | |
| UMLS | C5680686 | 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 (2):
- ORPHA:183654Rare genetic coagulation disorder
rare genetic diseases - ORPHA:248368Rare thrombotic disorder due to a platelet anomaly
rare hematological diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/248401
- This record as JSON: /data/d/248401.json