Shwachman-Diamond syndrome

This code identifies Shwachman-Diamond syndrome, a rare, inherited disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction (leading to neutropenia, anemia, or thrombocytopenia), and skeletal abnormalities. Patients often present with malabsorption, recurrent infections, and short stature.

Assign this code for confirmed diagnoses of Shwachman-Diamond syndrome based on clinical presentation, genetic testing, and laboratory findings. This code is appropriate when the medical record clearly documents the diagnostic criteria for this specific genetic disorder.

• Ensure documentation specifies "Shwachman-Diamond syndrome" and not a more general pancreatic or hematologic disorder.
• Code all associated manifestations separately, such as neutropenia (D70.x), anemia (D64.x), or skeletal deformities (Q78.x).
• Consider genetic counseling and testing documentation as strong support for this diagnosis.