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.
Associated morphologydysplasie
Finding sitestructuur van nagelplaat
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige congenitale misvormingen van nagels
SNOMED CT to Orphanet simple map280654
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q84.6
CorrelationSNOMED CT source code to target map code correlation not specified