retinale maculadystrofie type 2 (aandoening)
retinale maculadystrofie type 2
Retinal macular dystrophy type 2
MCDR2 - retinal macular dystrophy type 2
A rare, genetic macular dystrophy disorder characterized by slowly progressive bull's eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).
Associated morphologydystrofie
Finding sitestructuur van macula lutea
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map319640
SNOMED CT to ICD-10 extended map
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified