Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by generalized tortuosity and elongation of the large and medium-sized arteries. This condition often leads to vascular complications such as aneurysms, stenoses, and dissections, alongside distinctive facial features and skin laxity.

This code is appropriate for documenting a confirmed diagnosis of arterial tortuosity syndrome. It should be used when medical records clearly indicate the presence of the characteristic vascular abnormalities and associated clinical features consistent with ATS, often supported by genetic testing or imaging studies.

• Ensure documentation specifies "arterial tortuosity syndrome" to differentiate from other connective tissue disorders.
• Code any associated vascular complications (e.g., aneurysm, stenosis) separately and sequence them after the primary ATS code, if applicable.
• Review genetic testing results or detailed imaging reports (e.g., MRA, CTA) that confirm the diagnosis for accurate coding.