ICD-10 Code E78.72 – Smith-Lemli-Opitz syndrome (2026): Diagnosis, Symptoms & Billing Guide
2026 ICD-10-CM Diagnosis Code E78.72 – Smith-Lemli-Opitz syndrome
What it is
Smith-Lemli-Opitz syndrome is a rare inherited metabolic disorder that affects cholesterol production and normal development. Use this code for the confirmed diagnosis of this specific syndrome.
Clinical signs
Clinical features vary; refer to documentation. Common findings may include growth restriction, developmental delay, intellectual disability, and multiple congenital anomalies, especially characteristic facial features and genital or limb abnormalities.
When to use this code
Use E78.72 when the provider documents Smith-Lemli-Opitz syndrome as the diagnosis, including confirmed genetic or metabolic evaluation. Code it for encounters focused on management, evaluation, or follow-up of this condition. Do not use it for nonspecific developmental concerns without the documented syndrome.
Do not use for
Do not use this code for isolated cholesterol abnormalities, developmental delay alone, or congenital anomalies without a diagnosis of Smith-Lemli-Opitz syndrome. Check documentation if the record only suspects the disorder.
Coding tip
Assign E78.72 only when the syndrome is explicitly documented; otherwise code the reported abnormalities separately.