Status: current, Primitive. 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 | Active | Case sensitive | SNOMED CT core |
| 5063532013 | Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5063533015 | Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Decreased hearing | true | Inferred relationship | Some | ||
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Is a | Chronic nervous system 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 | true | Inferred relationship | Some | 3 | |
| PCNA-related progressive neurodegenerative photosensitivity syndrome | Finding site | Structure of auditory system | 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 | 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 | 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 | 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
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR