|||
gepigmenteerde paraveneuze retinochoroïdale atrofie (aandoening)
gepigmenteerde paraveneuze retinochoroïdale atrofie
PPRCA
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous chorioretinal atrophy
PPRCA - pigmented paravenous retinochoroidal atrophy
A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31.
Id723450004
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van retina
Occurrencecongenitaal
Associated morphologyatrophia
Finding sitestructuur van choroidea
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified