Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323606012 | Sengers syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3323608013 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3323609017 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3323607015 | A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Finding site | Myocardium structure | true | Inferred relationship | Some | 2 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 2 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Some | 1 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Some | 1 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 3 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Hypertrophic mitochondrial cardiomyopathy | true | Inferred relationship | Some | ||
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 4 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 4 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 4 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Associated morphology | Hypertrophy | false | Inferred relationship | Some | 5 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Finding site | Myocardium structure | false | Inferred relationship | Some | 5 | |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | Is a | Congenital cardiovascular disorder | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set