Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5072179010 | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5072180013 | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5072184016 | A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | est un(e) (attribut) | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | est un(e) (attribut) | Depletion of mitochondrial deoxyribonucleic acid (disorder) | true | Inferred relationship | Some | ||
| Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | est un(e) (attribut) | Disorder of pyrimidine metabolism | true | Inferred relationship | Some | ||
| Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | est un(e) (attribut) | True | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR