Deletion of short arm of chromosome 5

This code represents Cri-du-chat syndrome, a rare genetic disorder characterized by a partial deletion of the short arm of chromosome 5. Individuals typically present with a high-pitched, cat-like cry in infancy, intellectual disability, microcephaly, and distinctive facial features.

Use this code when documentation confirms a diagnosis of Cri-du-chat syndrome based on genetic testing showing a deletion on the short arm of chromosome 5. This diagnosis is often made in infancy or early childhood due to characteristic clinical findings.

• Ensure genetic testing results or a confirmed clinical diagnosis by a geneticist are present in the medical record.
• Do not code based solely on the presence of a cat-like cry without further diagnostic confirmation.
• Consider sequencing this code as a primary diagnosis when it is the definitive cause of the patient's presenting symptoms.