Bardet-Biedl syndrome

This code identifies Bardet-Biedl syndrome, a rare, inherited genetic disorder characterized by a constellation of symptoms including retinal degeneration, obesity, polydactyly, intellectual disability, hypogonadism, and kidney abnormalities. It is a ciliopathy, meaning it results from defects in cellular cilia.

Assign this code for patients definitively diagnosed with Bardet-Biedl syndrome based on clinical criteria and/or genetic testing. Documentation should clearly indicate the presence of multiple characteristic features of the syndrome. This code is appropriate for both initial diagnosis and ongoing management of the condition.

• Ensure documentation specifies "Bardet-Biedl syndrome" and not a related but distinct ciliopathy.
• Code all associated manifestations and complications, such as obesity (E66.x), renal failure (N18.x), or intellectual disabilities (F70-F79), as secondary diagnoses.
• Genetic testing results confirming a Bardet-Biedl syndrome gene mutation (e.g., BBS1, BBS2) strengthen documentation for this diagnosis.