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Progressive bifocal chorioretinal atrophy (disorder)
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.
progressieve bifocale chorioretinale atrofie
Id719266007
StatusPrimitive
Associated morphologyDystrophy
Finding siteRetinal structure
Associated morphologyDystrophy
Finding siteChoroidal structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH31.2
RuleTRUE
AdviceALWAYS H31.2
CorrelationSNOMED CT source code to target map code correlation not specified