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 |
| 5400050015 | A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by 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 |
| 5400051016 | A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterised by 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 | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Interprets | Hearing | true | Inferred relationship | Some | 2 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Congenital degeneration of nervous system | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Occurrence | Congenital | 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 | Occurrence | Congenital | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR