Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3424676019 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424677011 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424678018 | PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424679014 | PHARC syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424680012 | Peripheral neuropathy Fiskerstrand type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3424681011 | 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). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 1 | |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | est un(e) (attribut) | polyneuropathie | true | Inferred relationship | Some | ||
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | est un(e) (attribut) | Autosomal recessive retinitis pigmentosa | true | Inferred relationship | Some | ||
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | est un(e) (attribut) | Disorder of lipid metabolism | true | Inferred relationship | Some | ||
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | localisation d'une constatation (attribut) | nerf périphérique (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 1 | |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR