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keratine-1-gerelateerde diffuse niet-epidermolytische keratosis palmoplantaris (aandoening)
keratine-1-gerelateerde diffuse niet-epidermolytische keratosis palmoplantaris
KRT1-gerelateerde diffuse niet-epidermolytische palmoplantaire keratodermie
KRT1-related diffuse nonepidermolytic keratoderma
KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma)
Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma
A rare genetic isolated diffuse palmoplantar keratoderma with characteristics of diffuse, mild to thick finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areola, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.
Id1222645005
StatusPrimitive
SNOMED CT to Orphanet simple map530838
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified