Alport syndrome

This code identifies Alport syndrome, a rare genetic disorder characterized by progressive kidney disease, often leading to end-stage renal disease (ESRD). It typically involves hearing loss (sensorineural deafness) and ocular abnormalities, such as lenticonus or macular flecks, due to defects in type IV collagen.

Assign this code when documentation explicitly states a diagnosis of Alport syndrome. This includes cases with confirmed genetic testing, a family history consistent with the disorder, or the classic triad of progressive glomerulonephritis, sensorineural hearing loss, and ocular defects.

• Differentiate from other hereditary nephropathies; Alport syndrome specifically refers to type IV collagen defects.
• Code any associated manifestations, such as chronic kidney disease (CKD) stage, hearing loss, or ocular abnormalities, as secondary diagnoses.
• Ensure documentation clearly supports the diagnosis, including genetic testing results or clinical findings.