Prader-Willi syndrome

This code identifies Prader-Willi syndrome, a rare genetic disorder characterized by a range of physical, mental, and behavioral problems. Key features include hypotonia in infancy, developmental delays, hyperphagia leading to obesity, and distinctive facial features. The syndrome results from the loss of function of specific genes on chromosome 15.

Assign this code for patients diagnosed with Prader-Willi syndrome based on genetic testing or a comprehensive clinical evaluation. Documentation should clearly indicate the diagnosis of Prader-Willi syndrome, often noting associated symptoms such as intellectual disability, short stature, or behavioral issues.

• Ensure documentation specifies "Prader-Willi syndrome" and not a suspected or rule-out diagnosis.
• Code all associated manifestations and complications, such as morbid obesity (E66.2), intellectual disabilities (F70-F79), or diabetes mellitus (E10-E11), as secondary diagnoses.
• Genetic testing results confirming the diagnosis are ideal supporting documentation.