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progressieve kegel-staafdystrofie (aandoening)
kegel-staafdystrofie
progressieve kegel-staafdystrofie
Progressive cone-rod dystrophy
Cone-rod retinal dystrophy
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified