Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3323606012 | Sengers syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323608013 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323609017 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401604011 | Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401605012 | Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterised by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 3 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Hypertrophy | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Myocardium structure | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Secondary myopathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR