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progressieve kegel-staafdystrofie (aandoening)
kegel-staafdystrofie
progressieve kegel-staafdystrofie
Progressive cone-rod dystrophy
Cone-rod retinal dystrophy
A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.
Id80328002
Statusprimitief
gerelateerde morfologiedystrofie
locatie van bevindingstructuur van stratum neuroepitheliale retinae
klinisch verloopprogressief
referentieset met optometrische diagnosen
DHD Diagnosethesaurus-referentieset
door RIVM geautoriseerde complexe nationale ‘mapping’ naar ICD-10 voor diagnosethesaurus
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map1872
referentieset met complexe internationale 'mapping' naar ICD-10
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified