Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697915013 | COG2-related congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697916014 | COG2-CDG - component of oligomeric golgi complex 2 - congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697917017 | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697918010 | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697919019 | A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697920013 | A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupraemia and hypoceruloplasminaemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| COG2-related congenital disorder of glycosylation | Is a | Carbohydrate-deficient glycoprotein syndrome type II | true | Inferred relationship | Some | ||
| COG2-related congenital disorder of glycosylation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| COG2-related 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