PTEN hamartoma tumor syndrome

This code represents PTEN hamartoma tumor syndrome (PHTS), a group of rare genetic disorders characterized by germline mutations in the PTEN gene. PHTS encompasses conditions such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, predisposing individuals to multiple benign and malignant tumors in various organ systems.

Use this code when documentation explicitly states a diagnosis of PTEN hamartoma tumor syndrome or one of its recognized variants (e.g., Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome) confirmed by genetic testing or clinical criteria. This code is appropriate for patients undergoing surveillance or treatment for manifestations of PHTS.

• Do not confuse this with codes for specific manifestations of PHTS; this code identifies the underlying genetic syndrome.
• Always sequence this code as a primary diagnosis when the PHTS is the focus of the encounter, followed by codes for specific associated conditions.
• Ensure documentation clearly specifies "PTEN hamartoma tumor syndrome" or a recognized PHTS variant; avoid using this code for suspected but unconfirmed cases.