Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3437625016 | Muscle and heart glycogen synthase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437626015 | Muscle and heart glycogen synthase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437627012 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437628019 | Glycogen storage disease type 0b | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437629010 | Glycogenosis due to muscle and heart glycogen synthase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437630017 | Glycogenosis type 0b | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 7828031000146116 | spiergebonden en hartgebonden glycogeensynthasedeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7828041000146112 | spiergebonden en hartgebonden glycogeensynthasedeficiëntie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7828051000146110 | spiergebonden en hartgebonden deficiëntie van glycogeensynthase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7828061000146113 | spiergebonden en hartgebonden glycogeensynthetasedeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3437631018 | This syndrome has characteristics of muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Muscle and heart glycogen synthase deficiency (disorder) | Due to | Glycogen synthase deficiency | true | Inferred relationship | Some | 2 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Cardiomyopathy associated with another disorder (disorder) | false | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Hypertrophic cardiomyopathy | false | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Glycogen synthase deficiency | false | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Finding site | Liver structure | false | Inferred relationship | Some | 4 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 6 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Finding site | Myocardium structure | false | Inferred relationship | Some | 5 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Hypertrophic cardiomyopathy due to glycogen storage disease | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Glycogen storage disease | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Metabolic myopathy | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Secondary myopathy | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Cardiomyopathy secondary to metabolic disorder | false | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Congenital myopathy (disorder) | true | Inferred relationship | Some | ||
| Muscle and heart glycogen synthase deficiency (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR