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E78.72

Billable

Smith-Lemli-Opitz syndrome

This code does not map to an HCC category in any model (V28, V24, ESRD, RxHCC).

What This Code Means

Smith-Lemli-Opitz syndrome is a rare inherited metabolic disorder where the body cannot properly process cholesterol, causing developmental delays, intellectual disability, and physical abnormalities.

Coding Tips

  • •This is an autosomal recessive genetic disorder; document genetic testing confirmation and cholesterol levels
  • •Associated features include characteristic facial features, limb abnormalities, and behavioral issues; document these in the record

Code Hierarchy

└E78Disorders of lipoprotein metabolism and other lipidemias└E78.7Disorders of bile acid and cholesterol metabolism└E78.72Smith-Lemli-Opitz syndrome
└E78.72Smith-Lemli-Opitz syndrome

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