MED13L syndrome

This code identifies MED13L syndrome, a rare genetic disorder characterized by intellectual disability, developmental delay, and distinctive facial features. Patients often present with hypotonia, speech impairment, and may have congenital heart defects or other structural anomalies.

Utilize this code when a patient has a confirmed diagnosis of MED13L syndrome, typically established through genetic testing. Documentation should clearly state the diagnosis and any associated clinical manifestations. This code is appropriate for ongoing management and surveillance of affected individuals.

• Ensure genetic testing results or a definitive clinical diagnosis by a specialist are present in the medical record.
• Code all associated congenital anomalies and intellectual disabilities separately to provide a comprehensive clinical picture.
• Do not confuse with other genetic syndromes presenting with intellectual disability; confirm the specific MED13L diagnosis.