Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Jun 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5071631016 | Mannosephosphate isomerase congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5071632011 | Congenital disorder of glycosylation type 1b | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5071633018 | Mannosephosphate isomerase congenital disorder of glycosylation | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5071634012 | MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5071635013 | Carbohydrate deficient glycoprotein syndrome type Ib | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 5071636014 | Mannose-6-phosphate isomerase congenital disorder of glycosylation | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mannosephosphate isomerase congenital disorder of glycosylation | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Existential restriction modifier | ||
| Mannosephosphate isomerase congenital disorder of glycosylation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Mannosephosphate isomerase congenital disorder of glycosylation | Due to | Deficiency of mannose-6-phosphate isomerase | true | Inferred relationship | Existential restriction modifier | 2 | |
| Mannosephosphate isomerase congenital disorder of glycosylation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR