Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 410733010 | Glycogen heart disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 410734016 | Generalised glycogen storage disease of infants | en | Synonym (core metadata concept) | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 410735015 | Generalized glycogen storage disease of infants | en | Synonym (core metadata concept) | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 667668013 | Glycogen storage disease, type II (disorder) | en | Fully specified name | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2765038013 | Glycogen storage disease, type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3297533010 | Pompe's disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3297616011 | Pompe disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331980017 | Glycogen storage disease due to acid maltase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331981018 | Alpha-1,4-glucosidase acid deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331982013 | Glycogenosis due to acid maltase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331983015 | Glycogenosis type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5247931017 | Glycogen storage disease due to acid maltase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331984014 | Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449361014 | A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449362019 | A rare lysosomal storage disease characterised by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalised muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Glycogen storage disease due to acid maltase deficiency | Is a | Glycogen storage disease | true | Inferred relationship | Some | ||
| Glycogen storage disease due to acid maltase deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Glycogen storage disease due to acid maltase deficiency | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | ||
| Glycogen storage disease due to acid maltase deficiency | Finding site | Liver structure | false | Inferred relationship | Some | ||
| Glycogen storage disease due to acid maltase deficiency | Is a | Glycogen storage disease, muscular form | false | Inferred relationship | Some | ||
| Glycogen storage disease due to acid maltase deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Glycogen storage disease due to acid maltase deficiency | Due to | Deficiency of glucan 1,4-alpha-glucosidase | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Glycogen storage disease due to acid maltase deficiency, infantile onset | Is a | True | Glycogen storage disease due to acid maltase deficiency | Inferred relationship | Some | |
| Glycogen storage disease due to acid maltase deficiency, late-onset | Is a | True | Glycogen storage disease due to acid maltase deficiency | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR