Chorioretinal atrophy
Congenital disease
Hereditary disorder of the visual system
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Pigmented paravenous retinochoroidal atrophy (disorder)
Pigmented paravenous retinochoroidal atrophy
PPRCA - pigmented paravenous retinochoroidal atrophy
Pigmented paravenous chorioretinal 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.
gepigmenteerde paraveneuze retinochoroïdale atrofie
PPRCA
Id723450004
StatusPrimitive
Associated morphologyAtrophy
Finding siteRetinal structure
OccurrenceCongenital
Associated morphologyAtrophy
Finding siteChoroidal structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified