Autosomal dominant hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Short stature disorder
Spondyloepiphyseal dysplasia congenita
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Spondyloepiphyseal dysplasia Reardon type (disorder)
Spondyloepiphyseal dysplasia Reardon type
An extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and with characteristics of short stature, vertebral and femoral abnormalities, cervical instability and neurological manifestations secondary to anomalies of the odontoid process.
spondylo-epifysaire dysplasie Reardon-type
Id718764004
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsHeight / growth measure
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