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palmoplantaire keratodermie type Nagashima (aandoening)
palmoplantaire keratodermie type Nagashima
palmoplantaire hyperkeratose type Nagashima
PPK type Nagashima
Palmoplantar keratoderma Nagashima type
This disease is a non-syndromic diffuse palmoplantar keratoderma resembling a mild form of mal de Meleda. So far, it has been described in 20 individuals.Transmission is autosomal recessive. Evidence suggests this disease is caused by homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.
Id722205008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified