Neurofibromatosis, type 1

This code identifies Neurofibromatosis type 1 (NF1), a common, inherited neurocutaneous disorder characterized by the growth of multiple benign tumors (neurofibromas) along nerves, as well as distinctive skin findings like café-au-lait spots and freckling in the axillary or inguinal regions. It is a multisystem disorder that can affect the skin, nervous system, bones, and endocrine glands.

Assign this code when documentation explicitly states a diagnosis of Neurofibromatosis type 1. This diagnosis is typically established based on clinical criteria, including the presence of two or more characteristic features such as six or more café-au-lait macules, two or more neurofibromas, optic pathway glioma, Lisch nodules, or a first-degree relative with NF1.

• Do not confuse this with other types of neurofibromatosis, such as NF2 (Q85.02) or schwannomatosis (Q85.03).
• Code all manifestations of NF1, such as optic pathway gliomas (C71.0), scoliosis (M41.-), or pseudoarthrosis (M84.3-), in addition to the primary diagnosis of NF1.
• Ensure the provider's documentation clearly specifies "type 1" to differentiate it from other forms of neurofibromatosis.