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autosomaal recessieve nageldysplasie (aandoening)
autosomaal recessieve nageldysplasie
Autosomal recessive nail dysplasia
A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1.
Id782878007
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van nagelplaat
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetQ84.6
TermOverige congenitale misvormingen van nagels
referentieset met complexe 'mapping' naar ICD-10
TargetQ84.6
RuleTRUE
AdviceALWAYS Q84.6
CorrelationSNOMED CT source code to target map code correlation not specified