" /> Primary congenital hypothyroidism due to impaired hormone production - CISMeF





Preferred Label : Primary congenital hypothyroidism due to impaired hormone production;

ICD-11 definition : Familial thyroid dyshormonogenesis is 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.;

ICD-11 synonym : dyshormogenetic struma; Familial dyshormonogenetic goitre; Familial thyroid dyshormonogenesis; Dyshormonogenetic hypothyroidism; dyshormogenetic goitre; Hereditary thyroid dyshormonogenesis;

ICD-11 inclusion : genetic defect in thyroid hormonogenesis ii b; thyroid hormone organification defect ii b; familial dyshormogenetic goitre; hypothyroidism with sensorineural deafness;

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Familial thyroid dyshormonogenesis is 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.

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07/07/2025


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