Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702245015 | Proximal myopathy with extrapyramidal signs | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702246019 | Proximal myopathy with extrapyramidal signs (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6461701000146119 | proximale myopathie met extrapiramidale symptomen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6461711000146117 | proximale myopathie met extrapiramidale symptomen (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3702248018 | A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Proximal myopathy with extrapyramidal signs | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 2 | |
| Proximal myopathy with extrapyramidal signs | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Proximal myopathy with extrapyramidal signs | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
| Proximal myopathy with extrapyramidal signs | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Proximal myopathy with extrapyramidal signs | Is a | Proximal myopathy | true | Inferred relationship | Some | ||
| Proximal myopathy with extrapyramidal signs | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Proximal myopathy with extrapyramidal signs | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Proximal myopathy with extrapyramidal signs | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Proximal myopathy with extrapyramidal signs | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR