Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498427016 | Mitochondrial myopathy, lactic acidosis, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498428014 | Mitochondrial myopathy, lactic acidosis, hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498429018 | Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 7422691000146115 | syndroom van mitochondriale myopathie, lactaatacidose en doofheid (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7422701000146115 | syndroom van mitochondriale myopathie, lactaatacidose en doofheid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3499918019 | A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterised clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninaemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3499919010 | A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Is a | Lactic acidosis | true | Inferred relationship | Some | ||
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Interprets | Hearing | false | Inferred relationship | Some | 3 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 4 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Is a | Congenital myopathy (disorder) | false | Inferred relationship | Some | ||
| Mitochondrial myopathy, lactic acidosis, deafness syndrome | Is a | Congenital hearing loss (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR