Congenital hypothyroidism with diffuse goiter

This diagnosis code signifies a condition present at birth where the thyroid gland is underactive (hypothyroidism) and is also enlarged (diffuse goiter). This leads to insufficient production of thyroid hormones essential for normal growth and development.

Assign this code when documentation clearly indicates congenital hypothyroidism accompanied by a diffuse goiter. This typically involves neonatal screening results showing low thyroid hormone levels and physical examination or imaging confirming an enlarged thyroid gland.

• Differentiate from transitory congenital goiter with normal function, which is excluded.
• Ensure documentation specifies "diffuse" goiter; other types of goiter may require different codes.
• Consider additional codes for any associated intellectual disabilities or developmental delays.