Progressive diaphyseal dysplasia

This code represents progressive diaphyseal dysplasia, also known as Camurati-Engelmann disease. It is a rare, inherited disorder characterized by abnormal bone growth and thickening (hyperostosis) primarily affecting the diaphyses (shafts) of long bones, leading to bone pain, muscle weakness, and fatigue.

Assign this code for patients diagnosed with Camurati-Engelmann disease based on clinical presentation, radiographic findings demonstrating cortical thickening of long bones, and often confirmed by genetic testing. Documentation should clearly indicate the diagnosis of progressive diaphyseal dysplasia.

• Ensure documentation specifies "progressive diaphyseal dysplasia" or "Camurati-Engelmann disease" to support code assignment.
• Do not confuse with other forms of skeletal dysplasia unless the specific diagnosis of progressive diaphyseal dysplasia is confirmed.
• Consider any associated symptoms or complications, such as muscle weakness or neurological involvement, for additional coding.