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kegeldystrofie met supranormale staafrespons (aandoening)
kegeldystrofie met supranormale staafrespons
Cone dystrophy with supernormal rod response
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal rod response is an inherited retinopathy, with an onset in the first or second decade of life. The disease has characteristics of poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia and occasionally nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of the disease is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
Id719455002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van cellula optica coniformis
Finding sitestaafje van retina
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map209932
SNOMED CT to ICD-10 extended map
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified