E00.1

HCC Category Mapping

What This Code Means

This is a rare congenital condition where a baby is born with severe thyroid hormone deficiency due to lack of iodine during pregnancy, resulting in intellectual disability, growth problems, and characteristic facial puffiness. It represents the most severe form of iodine deficiency disease affecting newborns.

Coding Tips

• •This code is rarely used in modern developed countries due to iodine supplementation programs; verify documentation clearly states congenital iodine-deficiency syndrome with myxedematous manifestations before coding
• •Do not confuse with acquired hypothyroidism (E03.x) or other congenital thyroid disorders; ensure the iodine deficiency etiology is explicitly documented

Clinical Significance

Congenital iodine-deficiency syndrome, myxedematous type, results from severe prenatal and postnatal iodine deficiency leading to profound hypothyroidism with characteristic features including growth retardation, myxedematous facies, dry skin, delayed skeletal maturation, and intellectual disability. Unlike the neurological type, thyroid hormone deficiency predominates. This condition is associated with very high thyroid-stimulating hormone levels and a small or atrophic thyroid gland.

Documentation Requirements

• ✓Documentation must confirm the myxedematous type of congenital iodine-deficiency syndrome with hypothyroid clinical features (growth retardation, myxedema, delayed bone age), thyroid function tests showing severe hypothyroidism, and history consistent with iodine deficiency.
• ✓The myxedematous type should be distinguished from the neurological type based on the predominant clinical features.
• ✓Thyroid replacement therapy and response should be documented.

Commonly Confused Codes