ICD-10 Code E78.71 – Barth syndrome (2026): Diagnosis, Symptoms & Billing Guide
2026 ICD-10-CM Diagnosis Code E78.71 – Barth syndrome
What it is
Use E78.71 for Barth syndrome, a rare inherited metabolic disorder. It is associated with cardiomyopathy, skeletal muscle weakness, and neutropenia.
Clinical signs
Clinical features vary; refer to documentation. Typical findings include heart muscle disease, low neutrophil counts, delayed growth, and muscle weakness.
When to use this code
Assign this code when the record specifically documents Barth syndrome or a confirmed diagnosis of the disorder. Use it for encounters focused on the syndrome itself, including genetic or metabolic evaluation. Check documentation if the note only mentions isolated cardiac or hematologic findings.
Do not use for
Do not use E78.71 for nonspecific cardiomyopathy, neutropenia, or muscle weakness without documentation of Barth syndrome. Do not code it from suspicion alone.
Coding tip
Verify that the provider names Barth syndrome explicitly and supports it with the clinical record before assigning E78.71.