Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4670241018 | Solute carrier family 39 member 8 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4670242013 | SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4670243015 | Congenital disorder of glycosylation type 2n | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4670244014 | SLC39A8 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4670245010 | Congenital disorder of glycosylation type IIn | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4670246011 | Carbohydrate deficient glycoprotein syndrome type IIn | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4670247019 | Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4670248012 | A rare congenital disorder of glycosylation with characteristics of infantile onset of global developmental delay, severe intellectual disability, hypotonia and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections and osteopenia among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialotransferrin and increased asialotransferrin, monosialotransferrin, disialotransferrin, and trisialotransferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| SLC39A8 congenital disorder of glycosylation | Is a | Carbohydrate-deficient glycoprotein syndrome type II | true | Inferred relationship | Some | ||
| SLC39A8 congenital disorder of glycosylation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| SLC39A8 congenital disorder of glycosylation | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR