5A00.00
category
Permanent congenital hypothyroidism with diffuse goitre
Definition
A condition caused by a partial or complete loss of thyroid function due to failure of the thyroid to correctly develop during the antenatal period. This condition is characterised by a swollen, smooth thyroid gland, and in infants by a dull look, puffy face, and thick tongue that sticks out. This condition may also present with choking episodes, constipation, dry brittle hair, jaundice, lack of muscle tone, low hairline, poor feeding, short height, sleepiness, or sluggishness.
Exclusions
Also indexed as
Congenital hypothyroidism due to dual oxidase 2 mutationCongenital hypothyroidism due to dual oxidase maturation factor 2Congenital hypothyroidism due to iodine or sodium symporter mutationsCongenital hypothyroidism due to iodotyrosine deiodinaseCongenital hypothyroidism due to thyroglobulin mutationsCongenital hypothyroidism due to thyroid deiodinase mutationsCongenital hypothyroidism due to thyroid peroxidase mutationsDyshormonogenetic hypothyroidismFamilial dyshormonogenetic goitreFamilial thyroid dyshormonogenesisGenetic defect in thyroid hormonogenesis 2BHereditary thyroid dyshormonogenesisHypothyroidism due to peripheral resistance to thyroid hormonesHypothyroidism with sensorineural deafnessMutation of the thyroid receptor betaPermanent congenital hypothyroidism with diffuse goitrePrimary congenital hypothyroidism due to impaired hormone productioncongenital diffuse goitrecongenital diffuse strumacongenital goitre NOScongenital hypothyroidism with diffuse goitrecongenital nontoxic goitrecongenital nontoxic parenchymatous goitrecongenital parenchymatous goitrecongenital parenchymatous strumacongenital plunging goitrecongenital strumacongenital substernal goitredyshormogenetic goitredyshormogenetic strumafamilial dyshormogenetic goitregoitrous cretinneonatal strumathyroid hormone organification defect ii b