Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5063531018 | PCNA-related progressive neurodegenerative photosensitivity syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5063532013 | Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5063533015 | Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5063547016 | A rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and with characteristics of neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Decreased hearing | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | trouble neurologique chronique | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 4 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 2 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 2 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 1 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | est un(e) (attribut) | Congenital degeneration of nervous system | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR