autosomaal recessieve hereditaire aandoening
hereditaire diffuse keratosis palmoplantaris
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palmoplantaire keratodermie type Nagashima (aandoening)
palmoplantaire keratodermie type Nagashima
PPK type Nagashima
palmoplantaire hyperkeratose 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
Associated morphologyhyperkeratose
Finding sitegehele huid van palmaire zijde van hand
Associated morphologyhyperkeratose
Finding sitegehele huid van plantaire zijde van voet
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map140966
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified