ORPHA:226292
Permanent congenital hypothyroidism
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Permanent congenital hypothyroidism | |
| fr | Hypothyroïdie congénitale permanente | |
| de | Hypothyreose, kongenitale permanente | |
| es | Hipotiroidismo congénito permanente | |
| it | Ipotiroidismo congenito permanente | |
| nl | Permanente congenitale hypothyreoïdie | |
| pt | Hipotiroidismo congénito permanente | |
| pl | Całkowita wrodzona niedoczynność tarczycy | |
| cs | Permanentní vrozená hypotyreóza | |
| uk | Постійний вроджений гіпотиреоз | |
| zh | 永久性先天性甲状腺功能减退症 | |
| tr | Kalıcı doğumsal hipotiroidi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5A00.0Y | NTBT | index | validated |
| MONDO | 0016408 | E | validated | |
| MONDO | 16408 | E | validated | |
| UMLS | C5680893 | 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:442Congenital hypothyroidism
rare genetic diseases; rare endocrine diseases - ORPHA:156643Genetic endocrine growth disease
rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:226310OBSOLETE: Peripheral hypothyroidism referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 33.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| 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/226292
- This record as JSON: /data/d/226292.json