Autosomal dominant hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Spondyloepiphyseal dysplasia congenita
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Spondyloepiphyseal dysplasia Kimberley type (disorder)
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.
spondylo-epifysaire dysplasie Kimberley-type
Id719203001
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified