autosomaal recessieve hereditaire aandoening
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
rizomele dysplasie
spondylo-epimetafysaire dysplasie
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Smith-McCort-dysplasie (aandoening)
Smith-McCort-dysplasie
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.
Id715862006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
Has interpretationonder referentiebereik
Interpretslengtemeting van lichaam
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 map178355
SNOMED CT to ICD-10 extended map
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified