progressieve bifocale chorioretinale atrofie (aandoening)
progressieve bifocale chorioretinale atrofie
Progressive bifocal chorioretinal atrophy
An early-onset chorioretinal dystrophy with characteristics of large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision and slow disease progression. It has been described in two large families. Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus.
Associated morphologydystrofie
Finding sitestructuur van retina
Associated morphologydystrofie
Finding sitestructuur van choroidea
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire dystrofie van choroidea
SNOMED CT to Orphanet simple map75373
SNOMED CT to ICD-10 extended map
AdviceALWAYS H31.2
CorrelationSNOMED CT source code to target map code correlation not specified