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 |
| 204897017 | Deficiency of phosphomannose isomerase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 204898010 | Deficiency of phosphohexomutase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 204899019 | Deficiency of phosphohexoisomerase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 204900012 | Deficiency of mannose-6-phosphate isomerase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 728393017 | Deficiency of mannose-6-phosphate isomerase (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of mannose-6-phosphate isomerase | Is a | Specific enzyme deficiency | true | Inferred relationship | Some | ||
| Deficiency of mannose-6-phosphate isomerase | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Mannosephosphate isomerase congenital disorder of glycosylation (disorder) | Due to | True | Deficiency of mannose-6-phosphate isomerase | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR