ORPHA:95711
Congenital hypothyroidism due to developmental anomaly
Synonyms: Primary congenital hypothyroidism due to developmental anomaly
- Type
- Category
- Group
- Group of disorders
- Status
- active
Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hypothyroidism due to developmental anomaly | Primary congenital hypothyroidism due to developmental anomaly |
| fr | Hypothyroïdie congénitale par anomalie de développement de la thyroïde | Hypothyroïdie congénitale primitive par anomalie de développement de la thyroïde |
| de | Kongenitale Hypothyreose durch Entwicklungsanomalie | |
| es | Hipotiroidismo congénito por anomalía del desarrollo | Hipotiroidismo congénito primario por anomalía del desarrollo |
| it | Ipotiroidismo congenito da anomalia dello sviluppo | Ipotiroidismo congenito primitivo da anomalia dello sviluppo |
| nl | Congenitale hypothyreoïdie door ontwikkelingsanomalie | Pimaire congenitale hypothyreoïdie door ontwikkelingsanomalie |
| pt | Hipotiroidismo congénito por anomalia do desenvolvimento | Hipotiroidismo congénito primário por anomalia do desenvolvimento |
| pl | Wrodzona niedoczynność tarczycy spowodowana anomalią rozwojową | Wrodzona niedoczynność tarczycy spowodowana anomalią rozwojową |
| cs | Vrozená hypotyreóza způsobená vývojovou anomálií | Primární vrozená hypotyreóza způsobená vývojovou anomálií |
| uk | Вроджений гіпотиреоз внаслідок аномалії розвитку | Первинний вроджений гіпотиреоз внаслідок аномалії розвитку |
| zh | 发育异常所致先天性甲状腺功能减退症 | 发育异常所致原发性先天性甲状腺功能减退症 |
| tr | Gelişimsel anomaliye bağlı doğumsal hipotiroidi | Gelişimsel anomaliye bağlı primer doğumsal hipotiroidi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E03.1 | E | specific | validated |
| UMLS | C5680255 | 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 (1):
- ORPHA:226295Primary congenital hypothyroidism
rare genetic diseases; rare endocrine diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 21.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95711
- This record as JSON: /data/d/95711.json