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familiaire schildklierdyshormonogenese (aandoening)
familiaire schildklierdyshormonogenese
familiale dyshormonogenese van glandula thyroidea
familiaire dyshormonogenese van thyroïd
Familial thyroid dyshormonogenesis
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. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.
Id718183003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1 | MAPPED FOLLOWING WHO GUIDANCE
CorrelationSNOMED CT source code to target map code correlation not specified