autosomaal dominante diffuse palmoplantaire keratoderma Norrbotten-type (aandoening)
autosomaal dominante diffuse palmoplantaire keratoderma Norrbotten-type
niet-epidermolytische keratosis palmoplantaris
niet-epidermolytische palmoplantaire keratodermie
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
Non-epidermolytic palmoplantar keratoderma
This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map2337
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified