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mozaïekvorm van neurofibromatose type 2 (aandoening)
mozaïekvorm van neurofibromatose type 2
mozaïcisme van NF2
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 morphologyneurofibromatose
Finding sitestructuur van systema nervosum
Occurrencecongenitaal
Associated morphologyneurofibromatose
Finding sitestructuur van huid
Occurrencecongenitaal
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