Idiopathic congenital hypothyroidism
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary congenital hypothyroidsm without throid developmental anomaly characterized by hypothroidsm present at birth without a known cause. The thyroid gland is normal in shape, size and location. Goiter is always absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic congenital hypothyroidism | |
| fr | Hypothyroïdie congénitale idiopathique | |
| de | Hypothyreose, kongenitale, idiopathische | |
| es | Hipotiroidismo congénito idiopático | |
| it | Ipotiroidismo idiopatico congenito | |
| nl | Idiopathische congenitale hypothyreoïdie | |
| pt | Hipotiroidismo congénito idiopático | |
| pl | Idiopatyczna wrodzona niedoczynność tarczycy | |
| cs | Idiopatická vrozená hypotyreóza | |
| uk | Ідіопатичний вроджений гіпотиреоз | |
| zh | 特发性先天性甲状腺功能减退症 | |
| tr | İdiyopatik doğumsal hipotiroidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.0Y | NTBT | index | validated |
| MONDO | 0019858 | E | validated | |
| UMLS | C4273913 | 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:95714Primary congenital hypothyroidism without thyroid developmental anomaly
rare genetic diseases; rare endocrine diseases
No children.
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
24 annotations · validated 2021-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| Frequent (79-30%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002019 | Constipation | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0004491 | Large posterior fontanelle | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0001662 | Bradycardia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000282 | Facial edema | |
| HP:0001265 | Hyporeflexia | |
| HP:0002045 | Hypothermia | |
| HP:0001252 | Hypotonia | |
| HP:0001254 | Lethargy | |
| HP:0000158 | Macroglossia | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0031220 | Increased radioactive iodine uptake | |
| HP:0011437 | Maternal autoimmune disease | |
| HP:0031219 | Reduced radioactive iodine uptake | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26313902[PMID]_25634148[PMID]_20537182[PMID]_30324792[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95717
- This record as JSON: /data/d/95717.json