E03.0

HCC Category Mapping

What This Code Means

A condition present at birth where the thyroid doesn't produce enough hormones and is also enlarged (goiter), resulting from thyroid development problems.

Coding Tips

• •Distinguish from E03.1 by confirming the presence of goiter on physical examination or imaging
• •Document the etiology if known (dysgenesis, dyshormonogenesis, etc.) for complete coding

Clinical Significance

Congenital hypothyroidism with diffuse goiter occurs when the thyroid gland is present but unable to produce adequate thyroid hormone, leading to compensatory enlargement. Common causes include dyshormonogenesis (enzyme defects in thyroid hormone synthesis) and transplacental passage of maternal goitrogens or antithyroid antibodies. Early identification through newborn screening and prompt levothyroxine replacement are critical to prevent irreversible intellectual disability and growth impairment.

Documentation Requirements

• ✓Documentation should confirm congenital hypothyroidism with a diffuse goiter present since birth or early infancy.
• ✓Newborn screening results, confirmatory thyroid function tests (elevated thyroid-stimulating hormone, low free thyroxine), thyroid imaging or ultrasound findings, and the etiology if identified should be recorded.
• ✓Current levothyroxine dose, growth trajectory, and developmental milestones should be documented at follow-up visits.

Commonly Confused Codes