Autosomal dominant hereditary disorder
Hereditary retinal dystrophy
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Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder)
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
A rare genetic retinal dystrophy disorder with characteristics of 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. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.
retinadystrofie met functiestoornis van binnenste retinalaag en afwijking van ganglioncellen
Id774152007
StatusPrimitive
Associated morphologyDystrophy
Finding siteRetinal structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified