Central congenital hypothyroidism
Synonyms: Secondary hypothyroidism
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Central congenital hypothyroidism | Secondary hypothyroidism |
| fr | Hypothyroïdie congénitale centrale | Hypothyroïdie secondaire |
| de | Hypothyreose, kongenitale zentrale | |
| es | Hipotiroidismo congénito central | |
| it | Ipotiroidismo centrale congenito | Ipotiroidismo secondario |
| nl | Centrale congenitale hypothyreoïdie | Secundaire hypothyreoïdie |
| pt | Hipotiroidismo central | |
| pl | Ośrodkowa wrodzona niedoczynność tarczycy | Wtórna niedoczynność tarczycy |
| cs | Centrální vrozená hypotyreóza | Sekundární hypotyreóza |
| uk | Центральний вроджений гіпотиреоз | Вторинний гіпотиреоз |
| zh | 中枢性先天性甲状腺功能减退症 | 继发性甲状腺功能减退症 |
| tr | Santral doğumsal hipotiroidi | Sekonder hipotiroidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5A61.41 | E | specific | validated |
| MONDO | 0016410 | E | validated | |
| MONDO | 16410 | E | validated | |
| UMLS | C3665349 | E | validated | |
| GARD | 12280 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:226292Permanent congenital hypothyroidism
rare genetic diseases; rare endocrine diseases
Children (5):
- ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- ORPHA:90674Isolated thyroid-stimulating hormone deficiency
- ORPHA:238670Isolated thyrotropin-releasing hormone deficiency
- ORPHA:99832Resistance to thyrotropin-releasing hormone syndrome
- ORPHA:329235X-linked central congenital hypothyroidism with late-onset testicular enlargement
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/226298
- This record as JSON: /data/d/226298.json