ORPHA:95714
Primary congenital hypothyroidism without thyroid developmental anomaly
- Type
- Category
- Group
- Group of disorders
- Status
- active
Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary congenital hypothyroidism without thyroid developmental anomaly | |
| fr | Hypothyroïdie congénitale primitive sans anomalie de développement de la thyroïde | |
| de | Hypothyreose, kongenitale primäre, ohne Entwicklungsanomalie der Schilddrüse | |
| es | Hipotiroidismo congénito primario sin anomalía del desarrollo del tiroides | |
| it | Ipotiroidismo congenito primitivo senza anomalia dello sviluppo della tiroide | |
| nl | Pimaire congenitale hypothyreoïdie zonder schildklierontwikkelingsanomalie | |
| pt | Hipotiroidismo congénito primário sem anomalia do desenvolvimento da tiroide | |
| pl | Pierwotna wrodzona niedoczynność tarczycy bez anomalii rozwojowych tarczycy | |
| cs | Primární vrozená hypotyreóza bez tyreoidální vývojové anomálie | |
| uk | Первинний вроджений гіпотиреоз без аномалії розвитку щитоподібної залози | |
| zh | 原发性先天性甲状腺功能减退症不伴甲状腺发育异常 | |
| tr | Tiroid gelişimsel anomalisi olmayan primer doğumsal hipotiroidi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681562 | 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:226295Primary 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
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/95714
- This record as JSON: /data/d/95714.json