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2025 ICD-10-CM code Q85.82

Other Cowden syndrome.

When coding Cowden syndrome, it is essential to also code any associated manifestations or complications, such as cancers, benign tumors, or other health issues. If genetic susceptibility testing is performed, appropriate Z codes (Z15.0-) should also be used.

Medical necessity for genetic testing and other diagnostic procedures for Cowden syndrome is established by the presence of suggestive clinical findings or a family history of the condition. Early diagnosis is crucial for cancer surveillance and management of potential complications.

Clinical responsibility for diagnosing and managing Cowden syndrome typically falls on geneticists, genetic counselors, and other specialists depending on the specific manifestations of the condition (e.g., dermatologists, oncologists, gastroenterologists).

In simple words: This code is used for a rare genetic condition called Cowden syndrome, which causes non-cancerous growths called hamartomas and increases the risk of certain cancers.

Other Cowden syndrome. This code excludes Meckel-Gruber syndrome (Q61.9) and ataxia telangiectasia [Louis-Bar] (G11.3) and familial dysautonomia [Riley-Day] (G90.1).

Example 1: A patient presents with multiple skin lesions, including trichilemmomas and papules, and a family history of breast cancer. Genetic testing confirms a diagnosis of Cowden syndrome., A child is diagnosed with macrocephaly and developmental delays. Further examination and testing reveal intestinal hamartomas, leading to a diagnosis of Cowden syndrome., An adult patient with a history of thyroid cancer and Lhermitte-Duclos disease (a rare brain tumor) undergoes genetic testing. Results indicate a diagnosis of Cowden syndrome.

Documentation should include family history, physical exam findings (e.g., skin lesions, macrocephaly), imaging studies (e.g., ultrasound, MRI), and genetic testing results.

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