Smith-Lemli-Opitz syndrome

This code identifies Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive metabolic disorder characterized by a defect in cholesterol biosynthesis. It results from a deficiency of 7-dehydrocholesterol reductase, leading to a build-up of 7-dehydrocholesterol and low cholesterol levels. SLOS presents with a wide range of congenital anomalies, intellectual disability, and behavioral problems.

Use this code for patients diagnosed with Smith-Lemli-Opitz syndrome, typically identified through genetic testing or characteristic clinical findings. Documentation should clearly state the diagnosis of SLOS, often supported by genetic reports confirming mutations in the DHCR7 gene or biochemical evidence of abnormal sterol levels. This code is appropriate for initial diagnosis, ongoing management, and follow-up care for individuals with this genetic condition.

• Always confirm the diagnosis of SLOS with definitive documentation, such as genetic test results or a confirmed clinical diagnosis by a geneticist.
• Code all associated congenital anomalies and manifestations of SLOS separately, as this code only identifies the syndrome itself.
• Consider sequencing this code as the primary diagnosis when SLOS is the main reason for the encounter, followed by codes for specific manifestations.