|||||||
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
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
Associated morphologydystrofie
Finding sitestructuur van retina
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.2
TermNeuropathie in verband met hereditaire ataxie
TargetH91.9
TermGehoorverlies, niet gespecificeerd
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map171848
SNOMED CT to ICD-10 extended map
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