Other Cowden syndrome

This code signifies a diagnosis of Bannayan-Riley-Ruvalcaba syndrome (BRRS), a rare genetic disorder characterized by macrocephaly, lipomatosis, vascular malformations, and speckled penis in males. It is considered a phenotypic variant within the PTEN hamartoma tumor syndrome (PHTS) spectrum.

Assign this code when documentation explicitly states Bannayan-Riley-Ruvalcaba syndrome or another specified Cowden-like syndrome that is not classic Cowden syndrome. Supporting documentation should detail the characteristic features such as macrocephaly, multiple lipomas, or vascular anomalies.

• Differentiate from classic Cowden syndrome (Q85.81) based on specific diagnostic criteria documented.
• Code any associated manifestations (e.g., intellectual disability, developmental delays) separately.
• Ensure the provider's documentation clearly specifies "Bannayan-Riley-Ruvalcaba syndrome" or a similar variant to justify this specific code.