| 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). |
| | Id | 723452007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G60.2 | | Term | Neuropathie in verband met hereditaire ataxie |
| Target | H91.9 | | Term | Gehoorverlies, niet gespecificeerd |
| Target | H35.5 | | Term | Hereditaire retinadystrofie |
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| SNOMED CT to Orphanet simple map | 171848 |
| SNOMED CT to ICD-10 extended map | | Target | G60.2 | | Rule | TRUE | | Advice | ALWAYS G60.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H91.9 | | Rule | TRUE | | Advice | ALWAYS H91.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H35.5 | | Rule | TRUE | | Advice | ALWAYS H35.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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