Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
5068812017 | Fatal congenital hypertrophic cardiomyopathy due to glycogenosis | en | Synonym | Active | Case insensitive | SNOMED CT core |
5068813010 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
5068819014 | A rare glycogen storage disease with 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 | Case sensitive | 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 | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set