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 |
| 4674433010 | A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene with characteristics of neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses and marked serum immunoglobulin E 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) | est un(e) (attribut) | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | est un(e) (attribut) | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) | survenue (attribut) | congénital | 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) | est un(e) (attribut) | Congenital immunodeficiency disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR