Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3774798014 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3774799018 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | en | Synonym | Active | Case insensitive | SNOMED CT core |
3774802010 | A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. | en | Definition | Active | Case sensitive | SNOMED CT core |
3774803017 | A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fibre uniformity, absent or abnormally small type 2A fibres, increased variability of fibre size, internalised nuclei and/or fatty infiltration. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Chronic nervous system disorder | false | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Chronic disease of musculoskeletal system | false | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | External ophthalmoplegia | false | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Myoneural disorder | true | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Occurrence | Childhood | true | Inferred relationship | Some | 3 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Finding site | Eye region structure | true | Inferred relationship | Some | 3 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Clinical course | Progressive | true | Inferred relationship | Some | 4 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Progressive external ophthalmoplegia | true | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Finding site | Structure of extraocular muscle | true | Inferred relationship | Some | 5 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Is a | Myopathy of extraocular muscles | true | Inferred relationship | Some | ||
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Interprets | Movement | true | Inferred relationship | Some | 7 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Interprets | Movement observable | true | Inferred relationship | Some | 6 | |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Has interpretation | Absent | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set