Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5068811012 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5068812017 | Fatal congenital hypertrophic cardiomyopathy due to glycogenosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5068813010 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400141019 | A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400142014 | A rare glycogen storage disease characterised by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Is a | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Is a | Glycogen storage disease | true | Inferred relationship | Some | ||
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Is a | Hypertrophic cardiomyopathy due to glycogen storage disease | true | Inferred relationship | Some | ||
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Due to | Glycogen storage disease | true | Inferred relationship | Some | 2 | |
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 1 | |
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR