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retinadystrofie met functiestoornis van binnenste retinalaag en afwijking van ganglioncellen (aandoening)
retinadystrofie met functiestoornis van binnenste retinalaag en afwijking van ganglioncellen
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.
Id774152007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur 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 map397758
SNOMED CT to ICD-10 extended map
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified