Congenital hypothyroidism without goiter

This code signifies a condition present at birth where the thyroid gland does not produce sufficient thyroid hormones, leading to a hypothyroid state, and importantly, without any enlargement of the thyroid gland (goiter). This deficiency can impact growth and neurodevelopment if not promptly treated.

Use this code for newborns or infants diagnosed with primary congenital hypothyroidism where physical examination or imaging confirms the absence of goiter. Documentation should clearly state "congenital hypothyroidism" and explicitly rule out the presence of a goiter.

• Differentiate from acquired hypothyroidism (E03.9) or congenital hypothyroidism with goiter (E03.0).
• Ensure documentation specifies "without goiter" to accurately assign this code.
• Consider additional codes for any associated intellectual disabilities or developmental delays.