Velo-cardio-facial syndrome

This code identifies Velo-cardio-facial syndrome (VCFS), also known as 22q11.2 deletion syndrome or DiGeorge syndrome. It is a genetic disorder characterized by a range of symptoms including heart defects, palatal abnormalities (e.g., cleft palate), distinctive facial features, learning difficulties, and immune system deficiencies. The severity and combination of these features vary widely among affected individuals.

Use this code when documentation clearly indicates a diagnosis of Velo-cardio-facial syndrome, 22q11.2 deletion syndrome, or DiGeorge syndrome. This diagnosis is typically confirmed through genetic testing identifying a deletion on chromosome 22q11.2. It is appropriate for both initial diagnosis and ongoing management of patients with this confirmed genetic condition.

• Ensure the medical record explicitly states "Velo-cardio-facial syndrome," "22q11.2 deletion syndrome," or "DiGeorge syndrome."
• Code all associated manifestations and complications of the syndrome, such as congenital heart defects (Q20-Q28), cleft palate (Q35.1), or intellectual disabilities (F70-F79), in addition to this code.
• Do not confuse with other chromosomal abnormalities unless specifically documented as 22q11.2 deletion syndrome.