ICD-10 Code E72.04 – Cystinosis (2026): Diagnosis, Symptoms & Billing Guide

The ICD-10 code for Cystinosis is E72.04.
2026 ICD-10-CM Diagnosis Code E72.04 – Cystinosis

What it is

Cystinosis is a rare inherited disorder in which cystine accumulates inside cells. It can affect the kidneys, eyes, and other organs, so you should code it when the diagnosis is documented.

Clinical signs

Common findings include kidney tubular dysfunction, growth delay, and eye involvement such as corneal crystal deposits. Clinical features vary; refer to documentation.

When to use this code

Use E72.04 when the provider documents cystinosis as the confirmed diagnosis, including metabolic or genetic workups that identify the disorder. It is also appropriate when the chart clearly links renal, ocular, or systemic findings to cystinosis. Do not assign it for suspected disease without confirmation.

Do not use for

Do not use this code for general cystine abnormalities, kidney disease without a cystinosis diagnosis, or other lysosomal storage disorders. Check documentation.

Coding tip

Verify that cystinosis is stated explicitly in the assessment or problem list before coding E72.04.

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