autosomaal recessieve hereditaire aandoening
hereditaire diffuse keratosis palmoplantaris
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hereditaire palmoplantaire keratodermie Gamborg-Nielsen-type (aandoening)
hereditaire palmoplantaire keratodermie Gamborg-Nielsen-type
erfelijke keratosis palmoplantaris type Gamborg-Nielsen
Hereditary palmoplantar keratoderma Gamborg Nielsen type
The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.
Id717228004
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid van plantaire zijde van voet
Associated morphologyhyperkeratose
Finding sitegehele huid van palmaire zijde van hand
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 map86923
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified