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syndroom van polyneuropathie, gehoorverlies, ataxie, retinitis pigmentosa en cataract (aandoening)
syndroom van polyneuropathie, gehoorverlies, ataxie, retinitis pigmentosa en cataract
syndroom van polyneuropathie, hypacusie, ataxie, retinitis pigmentosa en cataract
PHARC
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
PHARC syndrome
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome
Peripheral neuropathy Fiskerstrand type
This rare neurologic disease is a slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
Id723452007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map171848
SNOMED CT to ICD-10 extended map
TargetG60.1
RuleTRUE
AdviceALWAYS G60.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified