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smith–lemli–opitz syndrome

Wikipedia Summary

Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene...
Related Codes (1)
Code
Description
Billable
Details
E78.72Smith-Lemli-Opitz syndrome

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