| Mosaic neurofibromatosis type 3 (disorder) | | Mosaic neurofibromatosis type 3 | | Mosaic schwannomatosis
MNF3 - mosaic neurofibromatosis type 3
Mosaic neurilemmomatosis
| | A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis. |
| | Id | 1382230003 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q85.0 | | Rule | TRUE | | Advice | ALWAYS Q85.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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