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. |
| Id | 782878007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q84.6 | Term | Overige congenitale misvormingen van nagels |
|
SNOMED CT to Orphanet simple map | 280654 |
SNOMED CT to ICD-10 extended map | Target | Q84.6 | Rule | TRUE | Advice | ALWAYS Q84.6 | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|