Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4674428011 | PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4674429015 | Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4674430013 | Phosphoglucomutase 3-related congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4674431012 | Combined immunodeficiency due to PGM3 (phosphoglucomutase 3) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674432017 | PGM3-related congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399670016 | A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399671017 | A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterised by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Is a | Combined immunodeficiency disease | false | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Is a | Hyperimmunoglobulin E syndrome | true | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Interprets | Immunoglobulin E measurement | true | Inferred relationship | Some | 3 | |
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR