Von Hippel-Lindau syndrome

This code represents Von Hippel-Lindau (VHL) syndrome, a rare, inherited disorder characterized by the abnormal growth of tumors and cysts in various parts of the body. These growths are typically benign but can become cancerous, affecting organs such as the brain, spinal cord, eyes, kidneys, adrenal glands, and pancreas.

Use this code when documentation clearly indicates a diagnosis of Von Hippel-Lindau syndrome. This diagnosis is often established through genetic testing confirming a mutation in the VHL gene, or through clinical findings consistent with the syndrome, such as multiple hemangioblastomas, pheochromocytomas, or renal cell carcinomas.

• Always code all manifestations of VHL syndrome, such as specific tumors or cysts, in addition to this primary diagnosis.
• Ensure documentation specifies "Von Hippel-Lindau syndrome" and not just a generic familial cancer syndrome.
• Consider genetic counseling and testing reports as supporting documentation for this diagnosis.