ziekte van Goldmann-Favre (aandoening)
ziekte van Goldmann-Favre
Goldmann-Favre syndrome
Enhanced S-cone syndrome
Retinoschisis with early nyctalopia
A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course.
Associated morphologydystrofie
Finding sitestructuur van corpus vitreum
Associated morphologydystrofie
Finding sitestructuur van retina
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map53540
SNOMED CT to ICD-10 extended map
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified