Classical Ehlers-Danlos syndrome

This code identifies Classical Ehlers-Danlos syndrome (cEDS), a rare, inherited connective tissue disorder characterized by extreme skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. It results from defects in type V collagen synthesis, leading to fragile tissues throughout the body.

Use this code for patients with a confirmed diagnosis of Classical Ehlers-Danlos syndrome, typically established through clinical criteria (Villefranche criteria) and often supported by genetic testing identifying pathogenic variants in COL5A1 or COL5A2. This code is appropriate for initial diagnosis and subsequent encounters for management of cEDS and its associated complications.

• Differentiate from other Ehlers-Danlos syndrome types; documentation must specify "Classical."
• Code any associated manifestations or complications (e.g., mitral valve prolapse, hernias) separately.
• Ensure genetic testing results or detailed clinical findings supporting the classical type are present in the medical record.