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 |
| 3331990013 | Glycogen storage disease due to acid maltase deficiency, infantile onset | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331991012 | Glycogenosis due to acid maltase deficiency, infantile onset | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331992017 | Glycogenosis type II, infantile onset | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3331993010 | Pompe disease, infantile onset | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3334442014 | Glycogen storage disease type II infantile onset | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5247932012 | Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6032601000146115 | op zuigelingenleeftijd optredende glycogeenstapelingsziekte type II | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7022941000146112 | glycogeenstapelingsziekte type II beginnend op zuigelingenleeftijd | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7022951000146110 | glycogeenstapelingsziekte type II beginnend op zuigelingenleeftijd (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3331988012 | Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332474015 | Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. | 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, infantile onset | Is a | Glycogen storage disease due to acid maltase deficiency | true | Inferred relationship | Some | ||
| Glycogen storage disease due to acid maltase deficiency, infantile onset | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Glycogen storage disease due to acid maltase deficiency, infantile 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
FHIR