Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies | |
| fr | Hypothyroïdie congénitale par passage transplacentaire d'anticorps anti-récepteur de la TSH | |
| de | Hypothyreose, kongenitale, durch transplazentare Passage von maternalen TSH-bindenden inhibitorischen Antikörpern | |
| es | Hipotiroidismo congénito por el paso transplacentario de anticuerpos maternos inhibidores de la unión a TSH | |
| it | Ipotiroidismo congenito dovuto al passaggio transplacentare degli anticorpi materni anti-TSH | |
| nl | Congenitale hypothyreoïdie door transplacentale passage van TSH-bindende inhiberende antilichamen | |
| pt | Hipotiroidismo congénito devido à passagem através da placenta de anticorpos maternos inibidores da ligação à TSH | |
| pl | Wrodzona niedoczynność tarczycy spowodowana przenikaniem przez łożysko przeciwciał wiążących TSH | |
| cs | Vrozená hypotyreóza způsobená transplacentárně přenesenými mateřskými protilátkami inhibujícími TSH receptor | |
| uk | Вроджений гіпотиреоз внаслідок трансплацентарної передачі ТТГ-звязуючих інгібіторних антитіл | |
| zh | TSH结合抑制抗体经胎盘所致先天性甲状腺功能减退症 | |
| tr | TSH bağlayıcı inhibitör antikorların transplasental geçişine bağlı doğumsal hipotiroidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P72.2 | NTBT | attributed | validated |
| ICD-11 | KB62.0 | NTBT | attributed | validated |
| MONDO | 0019857 | E | validated | |
| MONDO | 19857 | E | validated | |
| UMLS | C4273914 | 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:238696Transient congenital hypothyroidism due to maternal factor
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 | 1-9 / 100 000 | 1 / 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.
HPO phenotypes
21 annotations · validated 2021-05-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0011437 | Maternal autoimmune disease | |
| Frequent (79-30%) | ||
| HP:0002926 | Abnormality of thyroid physiology | |
| HP:0002019 | Constipation | |
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0031098 | Decreased thyroid-stimulating hormone level | |
| HP:0000958 | Dry skin | |
| HP:0011968 | Feeding difficulties | |
| HP:0100786 | Hypersomnia | |
| HP:0001265 | Hyporeflexia | |
| HP:0031219 | Reduced radioactive iodine uptake | |
| HP:0001537 | Umbilical hernia | |
| HP:0000260 | Wide anterior fontanel | |
| Occasional (29-5%) | ||
| HP:0025483 | Abnormal circulating thyroglobulin concentration | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0000280 | Coarse facial features | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0500011 | Moon facies | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| Excluded (0%) | ||
| HP:0000853 | Goiter | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25905261[PMID]_11577986[PMID]_20537182[PMID]_31894081[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95715
- This record as JSON: /data/d/95715.json