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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
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by 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.
Id763890006
StatusPrimitive
Finding sitebotstructuur
Global Patient Set
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE34.3
TermKleine gestalte, niet elders geclassificeerd
TargetE03.1
TermCongenitale hypothyroïdie zonder struma
SNOMED CT to Orphanet simple map171706
SNOMED CT to ICD-10 extended map
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified