occulte maculadystrofie (aandoening)
occulte maculadystrofie
Occult macular dystrophy
OCMD - occult macular dystrophy
OMD - occult macular dystrophy
A rare genetic retinal dystrophy disease with characteristics of bilateral progressive decline of visual acuity due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. There is evidence the disease is caused by heterozygous mutation in the RP1L1 gene on chromosome 8p23.
Clinical courseprogressief
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 map247834
SNOMED CT to ICD-10 extended map
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified