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schwannomatosis

Medical Definition

Rare genetic disorder caused by mutations in the smarcb1 and lztr1 genes. it is characterized by the presence of multiple schwannomas.

Wikipedia Summary

Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients, it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF...
Related Codes (1)
Code
Description
Billable
Details
Q85.03Schwannomatosis

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