Down's syndrome

This code identifies a chromosomal disorder characterized by the presence of an extra copy of chromosome 21, leading to a distinct set of physical features, intellectual disability, and an increased risk of certain medical conditions. It is a genetic condition present from birth, affecting various organ systems.

Assign this code for patients diagnosed with Down syndrome, typically confirmed through karyotype analysis. Use this code as a primary diagnosis when the Down syndrome is the focus of the encounter, or as a secondary diagnosis when managing associated conditions. Documentation should clearly state the diagnosis of Down syndrome.

• This code is a congenital condition; it should be reported for the lifetime of the patient.
• Always code any associated congenital anomalies or medical conditions (e.g., congenital heart defects, hypothyroidism) separately.
• Do not confuse with other chromosomal abnormalities unless Down syndrome is specifically documented.