E71.440

HCC Category Mapping

What This Code Means

Ruvalcaba-Myhre-Smith syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. It is a type of metabolic or developmental disorder that affects multiple body systems.

Coding Tips

• •This is a rare genetic syndrome; ensure documentation clearly identifies the diagnosis before coding to avoid confusion with other similar genetic conditions
• •Code E71.440 is specific to this syndrome; do not use more general metabolic disorder codes if this specific diagnosis is documented

Clinical Significance

Ruvalcaba-Myhre-Smith syndrome (now recognized as part of the PTEN hamartoma tumor syndrome spectrum including Bannayan-Riley-Ruvalcaba syndrome) is characterized by macrocephaly, intestinal hamartomatous polyps, lipomas, and pigmented macules of the glans penis. Patients carry increased cancer risk due to PTEN tumor suppressor gene mutations. Lifelong cancer surveillance is essential.

Documentation Requirements

• ✓Document clinical features (macrocephaly, hamartomatous polyps, lipomas, mucocutaneous findings), PTEN gene mutation testing results, family history of PTEN-related conditions, and cancer surveillance protocol.
• ✓Record any malignancies detected during surveillance.

Commonly Confused Codes