Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 386335019 | Lysosomal storage disease marker | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 386336018 | Lipidoses marker | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 650991011 | Lysosomal storage disease marker (substance) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lysosomal storage disease marker | Is a | Inborn errors of metabolism marker | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Cerebrosidase | Is a | False | Lysosomal storage disease marker | Inferred relationship | Some | |
| Cerebroside-sulfatase | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Acid phosphatase | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Beta-galactosidase | Is a | False | Lysosomal storage disease marker | Inferred relationship | Some | |
| Ganglioside | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Beta-N-acetylhexosaminidase | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Mucopolysaccharide | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Cholesterol | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Triacylglycerol | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Acid esterase | Is a | False | Lysosomal storage disease marker | Inferred relationship | Some | |
| Acid lipase | Is a | False | Lysosomal storage disease marker | Inferred relationship | Some | |
| Asialo GM2 | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Ceramidase | Is a | False | Lysosomal storage disease marker | Inferred relationship | Some | |
| Cerebroside sulfatase activator | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| GM2-ganglioside activator protein | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Lysobisphosphatidic acid | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| N-Acetylglucosamine | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some | |
| Sphingomyelinase | Is a | False | Lysosomal storage disease marker | Inferred relationship | Some | |
| Sulfolipid | Is a | True | Lysosomal storage disease marker | Inferred relationship | Some |
Reference Sets
Substance foundation reference set
FHIR