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5A00.00 Permanent congenital hypothyroidism with diffuse goitre

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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  (KB62)

synonyms

• Permanent congenital hypothyroidism with diffuse goitre
• congenital hypothyroidism with diffuse goitre
• goitrous cretin
• congenital diffuse goitre
• congenital diffuse struma
• congenital goitre NOS
• congenital nontoxic goitre
• congenital nontoxic parenchymatous goitre
• congenital parenchymatous struma
• congenital parenchymatous goitre
• neonatal struma
• congenital substernal goitre
• congenital struma
• congenital plunging goitre
• Primary congenital hypothyroidism due to impaired hormone production
• Familial dyshormonogenetic goitre
• Familial thyroid dyshormonogenesis
• Hereditary thyroid dyshormonogenesis
• Dyshormonogenetic hypothyroidism
• dyshormogenetic goitre
• dyshormogenetic struma
• familial dyshormogenetic goitre
• Congenital hypothyroidism due to iodotyrosine deiodinase
• Congenital hypothyroidism due to dual oxidase 2 mutation
• Congenital hypothyroidism due to dual oxidase maturation factor 2
• Congenital hypothyroidism due to iodine or sodium symporter mutations
• Congenital hypothyroidism due to thyroglobulin mutations
• Congenital hypothyroidism due to thyroid deiodinase mutations
• Congenital hypothyroidism due to thyroid peroxidase mutations
• Hypothyroidism with sensorineural deafness
• Genetic defect in thyroid hormonogenesis 2B
• thyroid hormone organification defect ii b
• Hypothyroidism due to peripheral resistance to thyroid hormones
• Mutation of the thyroid receptor beta

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