Autosomal recessive hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Spondyloepimetaphyseal disorder
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Smith McCort dysplasia (disorder)
Smith McCort dysplasia
A rare spondyloepimetaphyseal dysplasia with the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features and normal intelligence.
Smith-McCort-dysplasie
Id715862006
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