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 |
| 765751000241111 | syndrome d'encéphalopathie-cardiomyopathie hypertrophique-néphropathie tubulaire (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 941361000172116 | syndrome d'encéphalopathie-cardiomyopathie hypertrophique-néphropathie tubulaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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 | est un(e) (attribut) | Hypertrophic cardiomyopathy due to disorder | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 4 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Coenzyme Q10 deficiency (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Renal tubular disorder | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | localisation d'une constatation (attribut) | Renal tubule structure | true | Inferred relationship | Some | 5 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | complication liée au système nerveux central | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | complication urinaire | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | maladie métabolique du rein | true | Inferred relationship | Some | ||
| 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 | est un(e) (attribut) | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Cardiomyopathy associated with another disorder (disorder) | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | cardiomyopathie hypertrophique | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Mitochondrial cytopathy | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Peripheral neuropathy due to metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | est un(e) (attribut) | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some | ||
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | morphologie associée (attribut) | hypertrophie | true | Inferred relationship | Some | 1 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 1 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | localisation d'une constatation (attribut) | nerf périphérique (structure corporelle) | true | Inferred relationship | Some | 3 | |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR