Neurofibromatosis type 2
|
Mosaic neurofibromatosis type 2 (disorder)
Mosaic neurofibromatosis type 2
MNF2 - mosaic neurofibromatosis type 2
Mosaic NF2-related schwannomatosis
A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis.
Id1304119009
StatusPrimitive
Associated morphologyNeurofibromatosis
Finding siteStructure of nervous system
OccurrenceCongenital
Associated morphologyNeurofibromatosis
Finding siteSkin structure
OccurrenceCongenital
Associated morphologySchwannoma
Finding siteVestibulocochlear nerve structure
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ85.0
RuleTRUE
AdviceALWAYS Q85.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified