autosomaal dominante hereditaire aandoening
congenitale spondylo-epifysaire dysplasie
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
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spondylo-epifysaire dysplasie Kimberley-type (aandoening)
spondylo-epifysaire dysplasie Kimberley-type
Spondyloepiphyseal dysplasia Kimberley type
Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait.
Id719203001
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.7
TermSpondylo-epifysaire dysplasie
SNOMED CT to Orphanet simple map93283
SNOMED CT to ICD-10 extended map
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified