Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module | Reference Sets |
| 3638382019 | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3638383012 | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3638384018 | A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 4186831000052116 | syndrom med encefalopati, hypertrofisk kardiomyopati och renal tubulär sjukdom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) | Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Due to | Coenzyme Q10 deficiency (disorder) | true | Inferred relationship | Some | 4 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Cardiomyopathy associated with another disorder (disorder) | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Hypertrophic cardiomyopathy | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Peripheral neuropathy due to metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Congenital cardiovascular disorder (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 1 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 3 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Hypertrophic cardiomyopathy due to disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR