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 |
3331997011 | Glycogen storage disease type II late onset | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331998018 | Glycogen storage disease due to acid maltase deficiency, late-onset | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331999014 | Alpha-1,4-glucosidase acid deficiency, late onset | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332000015 | Glycogenosis type II, late onset | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3332001016 | Pompe disease, late onset | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5247937018 | Glycogen storage disease due to acid maltase deficiency, late-onset (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332002011 | Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3332003018 | Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterised by an accumulation of glycogen in lysosomes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3930941000052110 | glykogeninlagringssjukdom orsakad av brist på surt maltas, med sen debut | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Glycogen storage disease due to acid maltase deficiency, late-onset | Is a | Glycogen storage disease due to acid maltase deficiency | true | Inferred relationship | Some | ||
Glycogen storage disease due to acid maltase deficiency, late-onset | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Glycogen storage disease due to acid maltase deficiency, late-onset | Due to | Deficiency of glucan 1,4-alpha-glucosidase | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets