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syndroom van spondylometafysaire dysplasie met kegel-staafdystrofie (aandoening)
syndroom van spondylometafysaire dysplasie met kegel-staafdystrofie
SMD-CRD
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
Id719205008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified