AHA Coding Clinic® for ICD-10-CM and ICD-10-PCS - 2022 Issue 4; New/Revised ICD-10-CM Codes

PTEN Hamartoma Tumor Syndrome, Cowden Syndrome, and von Hippel-Lindau Syndrome

Code Q85.8, Other phakomatoses, not elsewhere classified, was expanded and unique codes have been created to describe PTEN tumor syndrome (Q85.81), other Cowden syndrome (Q85.82), and von Hippel-Lindau syndrome (Q85.83). PTEN hamartoma tumor syndrome (PHTS) is an uncommon condition that includes a spectrum of disorders caused by a germline heterozygous loss-of-function mutation in the Phosphatase and Tensin Homolog (PTEN) tumor suppressor gene. The syndrome is characterized by multiple hamartomas (benign tumors) that can affect various areas of the body. Estimating the prevalence of PHTS is difficult, because of the varied clinical presentations, and signs...

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