ORPHA:226295
Primary congenital hypothyroidism
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary congenital hypothyroidism | |
| fr | Hypothyroïdie congénitale primitive | HC |
| de | Hypothyreose, kongenitale primäre | |
| es | Hipotiroidismo primario congénito | |
| it | Ipotiroidismo primitivo congenito | |
| nl | Primaire congenitale hypothyreoïdie | |
| pt | Hipotiroidismo primário congénito | |
| pl | Pierwotna wrodzona niedoczynność tarczycy | |
| cs | Primární vrozená hypotyreóza | |
| uk | Первинний вроджений гіпотиреоз | |
| zh | 原发性先天性甲状腺功能减退症 | |
| tr | Primer doğumsal hipotiroidi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16409 | E | validated | |
| UMLS | C3715197 | 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:226292Permanent congenital hypothyroidism
rare genetic diseases; rare endocrine diseases
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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 |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 37.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 58.62 / 100 000 | United States | Value and class | Validated | 22766612[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 33 / 100 000 | Finland | Value and class | Validated | 35661828[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/226295
- This record as JSON: /data/d/226295.json