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mozaïekvorm van neurofibromatose type 1 (aandoening)
mozaïekvorm van neurofibromatose type 1
mozaïcisme van NF1
Mosaic neurofibromatosis type 1
MNF1 - mosaic neurofibromatosis type 1
A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicism and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1.
Id1304118001
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