ICD-10 Code E71.540 – Rhizomelic chondrodysplasia punctata (2026): Diagnosis, Symptoms & Billing Guide
2026 ICD-10-CM Diagnosis Code E71.540 – Rhizomelic chondrodysplasia punctata
What it is
E71.540 identifies rhizomelic chondrodysplasia punctata, a rare inherited disorder of skeletal development. It is used when documentation specifies this diagnosis, which affects bone growth and can include punctate calcifications.
Clinical signs
Typical findings include shortened proximal limbs, especially the humeri and femora, along with growth restriction and characteristic skeletal abnormalities. Clinical features vary; refer to documentation.
When to use this code
Use E71.540 when the provider documents rhizomelic chondrodysplasia punctata, confirmed clinically or by imaging/genetic evaluation. Apply it for encounters focused on the disorder itself, including evaluation of the skeletal phenotype or follow-up of a known diagnosis.
If the record only notes nonspecific limb shortening or another skeletal dysplasia, check documentation before assigning this code.
Do not use for
Do not use this code for general dwarfism, isolated skeletal anomalies, or other chondrodysplasias unless the diagnosis is specifically documented. Check documentation if the chart is unclear.
Coding tip
Code from the exact documented diagnosis; do not infer rhizomelic chondrodysplasia punctata from imaging findings alone.