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kleine gestalte met vertraagde botleeftijd door deficiëntie in schildklierhormoonmetabolisme (aandoening)
kleine gestalte met vertraagde botleeftijd door deficiëntie in schildklierhormoonmetabolisme
Short stature with delayed bone age due to thyroid hormone metabolism deficiency
A rare genetic congenital hypothyroidism disorder with characteristics of mild global developmental delay in childhood, short stature, delayed bone age and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness and impaired hearing have also been reported. The disease can be caused by homozygous or compound heterozygous mutation in the SECISBP2 gene on chromosome 9q22.
Id763890006
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1 | MAPPED FOLLOWING WHO GUIDANCE
CorrelationSNOMED CT source code to target map code correlation not specified