E03.1

Billable

Congenital hypothyroidism without goiter

HCC Category Mapping

RxHCCHCC 44 — Thyroid and Parathyroid Disorders

0.000

What This Code Means

A condition present at birth where the thyroid doesn't produce enough hormones, but the thyroid gland is normal in size without goiter.

Coding Tips

•Confirm absence of goiter to differentiate from E03.0; document thyroid size as normal on examination
•Newborn screening results (elevated TSH, low T4) should be documented to support diagnosis

Clinical Significance

Congenital hypothyroidism without goiter encompasses thyroid agenesis (absent thyroid gland), thyroid ectopia (thyroid tissue in an abnormal location such as sublingual), and thyroid hypoplasia. It is the most common form of congenital hypothyroidism, detected through universal newborn screening programs. Without prompt levothyroxine replacement, affected infants develop cretinism with severe intellectual disability, growth failure, and neurological impairment.

Documentation Requirements

✓Documentation should confirm congenital hypothyroidism without goiter, with newborn screening results, confirmatory thyroid function tests, and thyroid imaging (ultrasound or nuclear thyroid scan) to determine the underlying cause (agenesis, ectopia, hypoplasia).
✓Current levothyroxine replacement dose, adherence, thyroid function monitoring results, and developmental status should be documented at follow-up visits.

Commonly Confused Codes

E03.0 (Congenital hypothyroidism with diffuse goiter) is used when a goiter is present, suggesting dyshormonogenesis.E00.0-E00.9 (Congenital iodine-deficiency syndrome) requires an iodine-deficiency etiology.E03.9 (Hypothyroidism, unspecified) lacks the congenital specificity.P72.2 (Other neonatal goiter, not elsewhere classified) captures neonatal thyroid conditions not classified as congenital hypothyroidism.

Code Hierarchy

└E03Other hypothyroidism └E03.1Congenital hypothyroidism without goiter

└E03.1Congenital hypothyroidism without goiter