Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757264011 | Mitochondrial DNA deletion syndrome with limb-girdle weakness | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757265012 | Mitochondrial DNA deletion syndrome with progressive myopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757266013 | DNA2-related mitochondrial DNA deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777262014 | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777263016 | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 9167941000146118 | DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 9167951000146115 | DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 9516111000146113 | DNA2-gengerelateerd mtDNA-deletiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3757269018 | A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| DNA2-related mitochondrial DNA deletion syndrome | Is a | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
| DNA2-related mitochondrial DNA deletion syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| DNA2-related mitochondrial DNA deletion syndrome | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| DNA2-related mitochondrial DNA deletion syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| DNA2-related mitochondrial DNA deletion syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| DNA2-related mitochondrial DNA deletion syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| DNA2-related mitochondrial DNA deletion syndrome | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some | ||
| DNA2-related mitochondrial DNA deletion syndrome | Is a | Congenital myopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR