Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis
Definition
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
Also known as nongoitrous hyperthyrotropinemia, thyroid dyshormonogenesis — per MONDO
Also identified as
- DOID 0112183 per MONDO
- MESH C564766 per MONDO
- NCIT C121751 per MONDO
- Orphanet 95716 per MONDO
- SCTID 718183003 per MONDO
- UMLS C4273748 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Craniocervical region | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Craniocervical region | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Endocrine gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |