| congenitale centrale hypothyreoïdie door deficiëntie van thyrotropine-'releasing'-hormoonreceptor (aandoening) | | congenitale centrale hypothyreoïdie door deficiëntie van thyrotropine-'releasing'-hormoonreceptor | | aangeboren centrale hypothyroïdie door TRH-receptordeficiëntie
TRH-resistentiesyndroom
congenitale centrale hypothyroïdie door 'thyrotropin-releasing hormone'-receptordeficiëntie
| | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency | | TRH (thyrotropin-releasing hormone) resistance syndrome
Resistance to thyrotropin-releasing hormone syndrome
| | A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). |
| | Id | 725462002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 99832 |
| SNOMED CT to ICD-10 extended map | | Target | E03.1 | | Rule | TRUE | | Advice | ALWAYS E03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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