ORPHA:220489
Rare hereditary hemochromatosis
Synonyms: Iron overload disease
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- 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 hemochromatosis | Iron overload disease |
| fr | Hémochromatose héréditaire rare | Maladie de surcharge en fer |
| de | Hämochromatose, hereditäre seltene | Eisenüberladung |
| es | Hemocromatosis hereditaria rara | Enfermedad por sobrecarga de hierro |
| it | Emocromatosi ereditaria rara | Malattia da sovraccarico di ferro |
| nl | Zeldzame erfelijke hemochromatose | IJzerstapelingsziekte |
| pt | Hemocromatose rara | |
| pl | Rzadka dziedziczna hemochromatoza | Choroba przeładowania żelazem |
| cs | Vzácná dědičná hemochromatóza | Nemoc z přetížení organismu železem |
| uk | Рідкісний спадковий гемохроматоз | Хвороба перевантаження залізом |
| zh | 罕见遗传性血色病 | 铁超负荷病 |
| tr | Nadir kalıtsal hemokromatoz | Aşırı demir yükü hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16363 | 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 (3):
- ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:447792OBSOLETE: Hemochromatosis type 5 referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/220489
- This record as JSON: /data/d/220489.json