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congenitale centrale hypothyreoïdie door deficiëntie van thyrotropine-'releasing'-hormoonreceptor (aandoening)
congenitale centrale hypothyreoïdie door deficiëntie van thyrotropine-'releasing'-hormoonreceptor
TRH-resistentiesyndroom
congenitale centrale hypothyroïdie door 'thyrotropin-releasing hormone'-receptordeficiëntie
aangeboren centrale hypothyroïdie door TRH-receptordeficiëntie
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
Resistance to thyrotropin-releasing hormone syndrome
TRH (thyrotropin-releasing hormone) resistance 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).
Id725462002
StatusPrimitive
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified