ORPHA:448
Hemophilia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemophilia | |
| fr | Hémophilie | |
| de | Hämophilie | |
| es | Hemofilia | |
| it | Emofilia | |
| nl | Hemofilie | |
| pt | Hemofilia | |
| pl | Hemofilia | |
| cs | Hemofilie | |
| uk | Гемофілія | |
| zh | 血友病 | |
| tr | Hemofili |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018660 | E | validated | |
| MONDO | 18660 | E | validated | |
| UMLS | C0684275 | E | validated | |
| GARD | 10418 | E | validated | |
| MedDRA | 10061992 | 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:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
Children (2):
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 6.25 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 7.7 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 6.46 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/448
- This record as JSON: /data/d/448.json