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Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
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.
letale vorm van syndroom van artrogrypose en hyperkeratose
Johnston-Aarons-Schelley-syndroom
syndroom van Johnston-Aarons-Schelley
Id726620005
StatusPrimitive
Associated morphologyLesion
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyContracture
Finding siteStructure of joint region
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
Associated morphologyHyperkeratosis
Finding siteSkin structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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