Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3323606012 | Sengers syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323608013 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323609017 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 751561000241114 | syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 934401000172113 | syndrome de Sengers | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 977101000172110 | syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3323607015 | A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | morphologie associée (attribut) | hypertrophie | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 3 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | morphologie associée (attribut) | hypertrophie | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure du myocarde | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | est un(e) (attribut) | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR