Williams syndrome

This code represents Williams syndrome, a rare neurodevelopmental genetic disorder characterized by a distinctive facial appearance, cardiovascular problems (especially supravalvular aortic stenosis), unique cognitive profile including intellectual disability with strengths in verbal memory and social skills, and connective tissue abnormalities. It results from a microdeletion on chromosome 7.

Use this code when documentation explicitly identifies a patient with a confirmed diagnosis of Williams syndrome. This diagnosis is typically made based on clinical features and confirmed by genetic testing (e.g., FISH or chromosomal microarray). It should be assigned for ongoing management and treatment of individuals with this condition.

• Ensure documentation specifies "Williams syndrome" and not just generic intellectual disability or congenital heart defect, as these are components of the syndrome.
• Code all associated manifestations, such as specific cardiac anomalies (e.g., supravalvular aortic stenosis, coded separately), intellectual disabilities, and hypercalcemia.
• This is a congenital condition, so it will typically be a primary diagnosis or a significant secondary diagnosis influencing care throughout the patient's life.