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 |
| 3759344011 | Combined oxidative phosphorylation defect type 11 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759345012 | COXPD11 - combined oxidative phosphorylation defect type 11 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759346013 | Combined oxidative phosphorylation defect type 11 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759347016 | A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. | 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 11 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 11 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 11 | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 11 | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 11 | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR