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hypothyreoïdie door mutatie in transcriptiefactor voor ontwikkeling van hypofyse (aandoening)
hypothyreoïdie door mutatie in transcriptiefactor voor ontwikkeling van hypofyse
hypothyroïdie door mutatie in transcriptiefactor voor hypofyseontwikkeling
Hypothyroidism due to mutation in transcription factor of pituitary development
A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be 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. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q).
Id718194004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ89.2
RuleTRUE
AdviceALWAYS Q89.2
CorrelationSNOMED CT source code to target map code correlation not specified