ORPHA:217454
Rare hereditary thrombophilia
- Type
- Clinical group
- 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 | Rare hereditary thrombophilia | |
| fr | Thrombophilie héréditaire rare | |
| de | Thrombophilie, hereditäre, seltene | |
| es | Trombofilia hereditaria rara | |
| it | Trombofilia ereditaria rara | |
| nl | Zeldzame erfelijke trombofilie | |
| pt | Trombofilia hereditária rara | |
| pl | Rzadka dziedziczna trombofilia | |
| cs | Vzácná hereditární trombofilie | |
| uk | Рідкісна спадкова тромбофілія | |
| zh | 罕见遗传性血栓形成 | |
| tr | Nadir kalıtsal trombofili |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16320 | E | validated | |
| UMLS | C5680871 | 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:399185Rare hereditary disease with avascular necrosis
rare genetic diseases; rare systemic and rheumatological diseases; rare bone diseases - ORPHA:248361Rare thrombotic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
Children (4):
- ORPHA:82Hereditary thrombophilia due to congenital antithrombin deficiency
- ORPHA:217467Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
- ORPHA:745Severe hereditary thrombophilia due to congenital protein C deficiency
- ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiency
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/217454
- This record as JSON: /data/d/217454.json