Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2024. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5393193019 | Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5393194013 | FINCA (fibrosis, neurodegeneration, cerebral angiomatosis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5393195014 | Fibrosis, neurodegeneration, cerebral angiomatosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5393196010 | Interstitial lung fibrosis, neurodegeneration, cerebral angiomatosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5393197018 | A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5393198011 | A rare interstitial lung disease characterised by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Interstitial lung disease | true | Inferred relationship | Some | ||
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Chronic lung disease (disorder) | true | Inferred relationship | Some | ||
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Fibrosis of lung | true | Inferred relationship | Some | ||
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Finding site | Structure of interstitial tissue of lung | true | Inferred relationship | Some | 2 | |
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Associated morphology | Fibrosis | true | Inferred relationship | Some | 2 | |
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome | Is a | Lesion of soft tissue (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)