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syndroom van polyneuropathie, gehoorverlies, ataxie, retinitis pigmentosa en cataract (aandoening)
syndroom van polyneuropathie, gehoorverlies, ataxie, retinitis pigmentosa en cataract
PHARC
syndroom van polyneuropathie, hypacusie, ataxie, retinitis pigmentosa en cataract
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome
Peripheral neuropathy Fiskerstrand type
PHARC syndrome
A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12).
Id723452007
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologydystrofie
Finding sitestructuur van retina
referentieset met complexe 'mapping' naar ICD-10
TargetG60.2
RuleTRUE
AdviceALWAYS G60.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH91.9
RuleTRUE
AdviceALWAYS H91.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified