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 |
| 3331169018 | Severe X-linked mitochondrial encephalomyopathy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3331170017 | Severe X-linked mitochondrial encephalomyopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3331171018 | Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331172013 | Mitochondrial encephalomyopathy due to COXPD6 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6146311000146119 | ernstige X-gebonden mitochondriale encefalomyopathie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6146321000146112 | ernstige X-gebonden mitochondriale encefalomyopathie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6146331000146114 | mitochondriale encefalomyopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 6 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6146341000146118 | mitochondriale encefalomyopathie door COXPD6-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3331174014 | An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Mitochondrial encephalomyopathy (disorder) | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 3 | |
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Degenerative brain disorder | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some | ||
| Severe X-linked mitochondrial encephalomyopathy (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR