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 |
| 3638382019 | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638383012 | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 7422541000146113 | syndroom van encefalopathie, hypertrofische cardiomyopathie en renale tubulopathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7422551000146111 | syndroom van encefalopathie, hypertrofische cardiomyopathie en renale tubulopathie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7672251000146110 | syndroom van hersenaandoening, hypertrofische cardiomyopathie en renale tubulopathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Due to | Coenzyme Q10 deficiency (disorder) | false | 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) | false | 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) | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Occurrence | Congenital | false | 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 | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 4 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Coenzyme Q10 deficiency (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 5 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Central nervous system complication | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Urinary complication | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Metabolic renal disease | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Is a | Cardiomyopathy secondary to metabolic disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR