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letale vorm van syndroom van artrogrypose en hyperkeratose (aandoening)
letale vorm van syndroom van artrogrypose en hyperkeratose
Johnston-Aarons-Schelley-syndroom
syndroom van Johnston-Aarons-Schelley
Arthrogryposis hyperkeratosis syndrome lethal form
Johnston Aarons Schelley syndrome
An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993.
Id726620005
StatusPrimitive
Associated morphologyafwijkend weefsel
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
Associated morphologyhyperkeratose
Finding sitestructuur van huid
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.3
RuleTRUE
AdviceALWAYS Q74.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ80.8
RuleTRUE
AdviceALWAYS Q80.8
CorrelationSNOMED CT source code to target map code correlation not specified