ORPHA:442
Congenital hypothyroidism
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hypothyroidism | |
| fr | Hypothyroïdie congénitale | |
| de | Hypothyreose, kongenitale | |
| es | Hipotiroidismo congénito | |
| it | Ipotiroidismo congenito | |
| nl | Congenitale hypothyreoïdie | |
| pt | Hipotiroidismo congénito | |
| pl | Wrodzona niedoczynność tarczycy | |
| cs | Vrozená hypotyreóza | Kretenismus |
| uk | Вроджений гіпотиреоз | |
| zh | 先天性甲状腺功能减退症 | |
| tr | Doğumsal hipotiroidi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5A00.0 | E | specific | validated |
| MONDO | 0018612 | E | validated | |
| MONDO | 18612 | E | validated | |
| MeSH | D003409 | E | validated | |
| UMLS | C0010308 | E | validated | |
| GARD | 1487 | E | validated | |
| MedDRA | 10010510 | 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 (2):
- ORPHA:90692Rare endocrine growth disease
rare endocrine diseases - ORPHA:181396Rare hypothyroidism
rare genetic diseases; rare endocrine diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
47 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 38 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | France | Value and class | Validated | 15807875[PMID] |
| Point prevalence | 1-5 / 10 000 | — | France | Class only | Not yet validated | 15807875[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 57 / 100 000 | United Kingdom | Value and class | Not yet validated | 10102157[PMID]_21048833[PMID]_16595645[PMID] |
| Point prevalence | 1-5 / 10 000 | — | United Kingdom | Class only | Not yet validated | 10102157[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 45.5 / 100 000 | Italy | Value and class | Validated | 23025761[PMID]_23426615[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 57 / 100 000 | Greece | Value and class | Validated | 20591982[PMID]_23426615[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 55.5 / 100 000 | Cyprus | Value and class | Validated | 15921174[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 15.5 / 100 000 | Latvia | Value and class | Validated | 11400783[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Latvia | Class only | Not yet validated | 11400783[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 49.1 / 100 000 | China | Value and class | Validated | 23430943[PMID] |
| Point prevalence | 1-5 / 10 000 | — | China | Class only | Not yet validated | 23430943[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 30.2 / 100 000 | Germany | Value and class | Validated | 16318620[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Germany | Class only | Not yet validated | 16318620[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 29.4 / 100 000 | Denmark | Value and class | Validated | 9782755[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 25 / 100 000 | Poland | Value and class | Validated | 12762638[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Poland | Class only | Not yet validated | 12762638[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 35 / 100 000 | Estonia | Value and class | Validated | 9575454[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Estonia | Class only | Not yet validated | 9575454[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 54.8 / 100 000 | Lebanon | Value and class | Validated | 17146215[PMID] |
| Prevalence at birth | >1 / 1000 | 150 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 23060475[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 73.35 / 100 000 | Brazil | Value and class | Not yet validated | 23033178[PMID]_22911283[PMID]_ ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 43 / 100 000 | Turkey | Value and class | Validated | 15857333[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Turkey | Class only | Not yet validated | 15857333[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 35.4 / 100 000 | Australia | Value and class | Validated | 12031004[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Australia | Class only | Not yet validated | 12031004[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 63.7 / 100 000 | United Arab Emirates | Value and class | Validated | 15751925[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 76.9 / 100 000 | Bangladesh | Value and class | Validated | 15906726[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 62.5 / 100 000 | Pakistan | Value and class | Validated | 19904471[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 50.2 / 100 000 | Taiwan, Province of China | Value and class | Validated | 23291568[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 43 / 100 000 | Mexico | Value and class | Validated | 18782254[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Mexico | Class only | Not yet validated | 18782254[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 25.3 / 100 000 | Bosnia and Herzegovina | Value and class | Validated | 18668261[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Bosnia and Herzegovina | Class only | Not yet validated | 18668261[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 33.7 / 100 000 | Bahrain | Value and class | Validated | 20432804[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Bahrain | Class only | Not yet validated | 20432804[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 36 / 100 000 | New Zealand | Value and class | Validated | 22723332[PMID] |
| Point prevalence | 1-5 / 10 000 | — | New Zealand | Class only | Not yet validated | 22723332[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16 / 100 000 | Thailand | Value and class | Validated | 11400774[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Thailand | Class only | Not yet validated | 11400774[PMID] |
| Prevalence at birth | 1-5 / 10 000 | — | United States | Class only | Not yet validated | 17512233[PMID]_16509526[PMID] |
| Point prevalence | 1-5 / 10 000 | 44 / 100 000 | United States | Value and class | Not yet validated | 17512233[PMID]_16509526[PMID]_ ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 37.3 / 100 000 | Specific population | Value and class | Validated | 21632812[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 34.76 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 45 / 100 000 | Ireland | Value and class | Validated | 30242075[PMID] |
| Annual incidence | 6-9 / 10 000 | 97.0873 / 100 000 | Brazil | Value and class | Validated | 35209917[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.
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/442
- This record as JSON: /data/d/442.json