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Permanent congenital hypothyroidism with diffuse goitre
Hipotireoidismo congênito permanente com bócio difuso
CategoryDefinition
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
- transitory congenital goitre with normal function
Index Terms
Permanent congenital hypothyroidism with diffuse goitrecongenital hypothyroidism with diffuse goitregoitrous cretincongenital diffuse goitrecongenital diffuse strumacongenital goitre NOScongenital nontoxic goitrecongenital nontoxic parenchymatous goitrecongenital parenchymatous strumacongenital parenchymatous goitreneonatal strumacongenital substernal goitrecongenital strumacongenital plunging goitrePrimary congenital hypothyroidism due to impaired hormone productionFamilial dyshormonogenetic goitreFamilial thyroid dyshormonogenesisHereditary thyroid dyshormonogenesisDyshormonogenetic hypothyroidismdyshormogenetic goitredyshormogenetic strumafamilial dyshormogenetic goitreCongenital hypothyroidism due to iodotyrosine deiodinaseCongenital 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 thyroglobulin mutationsCongenital hypothyroidism due to thyroid deiodinase mutationsCongenital hypothyroidism due to thyroid peroxidase mutationsHypothyroidism with sensorineural deafnessGenetic defect in thyroid hormonogenesis 2Bthyroid hormone organification defect ii bHypothyroidism due to peripheral resistance to thyroid hormonesMutation of the thyroid receptor beta