Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3654902013 | Progressive external ophthalmoplegia, myopathy, emaciation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654903015 | Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654905010 | PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3654906011 | Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 767111000241116 | syndrome d'ophtalmoplégie externe progressive-myopathie-émaciation (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 884741000172116 | syndrome d'ophtalmoplégie externe progressive-myopathie-émaciation | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 903941000172112 | syndrome d'OEP-myopathie-émaciation | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3654907019 | A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterised by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalised muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3654908012 | A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Myopathy of extraocular muscles (disorder) | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 5 | |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | localisation d'une constatation (attribut) | Structure of extraocular muscle | true | Inferred relationship | Some | 4 | |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | progressive external ophthalmoplegia (trouble) | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | encéphalopathie métabolique | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 3 | |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 | |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome | localisation d'une constatation (attribut) | Eye region structure (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR