Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5234093010 | Combined oxidative phosphorylation defect type 39 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234094016 | Combined oxidative phosphorylation defect type 39 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234095015 | COXPD39 - combined oxidative phosphorylation defect type 39 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5234096019 | GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5234097011 | GFM2-related combined oxidative phosphorylation defect | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5234098018 | A rare mitochondrial oxidative phosphorylation disorder with characteristics of early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy or thin corpus callosum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined oxidative phosphorylation defect type 39 | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 39 | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 39 | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 39 | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 39 | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 39 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 39 | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| Combined oxidative phosphorylation defect type 39 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Combined oxidative phosphorylation defect type 39 | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 39 | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 39 | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Combined oxidative phosphorylation defect type 39 | Has interpretation | Impaired | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR