Di George's syndrome

This code represents DiGeorge syndrome, also known as 22q11.2 deletion syndrome, a primary immunodeficiency disorder characterized by defective development of the thymus and parathyroid glands. This genetic condition results in T-cell immunodeficiency, hypocalcemia, and often includes congenital heart defects and distinctive facial features.

Use this code for patients diagnosed with DiGeorge syndrome based on clinical presentation and confirmed by genetic testing (e.g., FISH for 22q11.2 deletion). Documentation should clearly indicate the diagnosis of DiGeorge syndrome, often noting associated features like hypoparathyroidism, cardiac anomalies, or recurrent infections due to T-cell deficiency.

• Do not confuse with other primary immunodeficiencies; ensure documentation specifically states DiGeorge syndrome.
• Code all associated manifestations, such as congenital heart defects (e.g., conotruncal anomalies), hypoparathyroidism, and developmental delays, as secondary diagnoses.
• Genetic testing results confirming the 22q11.2 deletion are strong supporting documentation for this diagnosis.