ORPHA:2207
Familial primary hyperparathyroidism
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- 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 | Familial primary hyperparathyroidism | |
| fr | Hyperparathyroïdie primitive familiale | |
| de | Hyperparathyreoidismus, familiärer primärer | |
| es | Hiperparatiroidismo familiar primario | |
| it | Iperparatiroidismo familiare primitivo | |
| nl | Familiale primaire hyperparathyreoïdie | |
| pt | Hiperparatiroidismo primário familiar | |
| pl | Rodzinna pierwotna nadczynność przytarczyc | |
| cs | Primární familiární hyperparatyreóza | |
| uk | Сімейний первинний гіперпаратиреоз | |
| zh | 家族性原发性甲状旁腺功能亢进症 | |
| tr | Ailesel primer hiperparatiroidi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016365 | E | validated | |
| MONDO | 16365 | E | validated | |
| UMLS | C0271846 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:208596Genetic hyperparathyroidism
rare genetic diseases - ORPHA:181408Rare hyperparathyroidism
rare endocrine diseases - ORPHA:100090Rare parathyroid tumor
rare endocrine diseases; rare neoplastic diseases
4
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.
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/2207
- This record as JSON: /data/d/2207.json