Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3437624017 | This disease has characteristics of psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene on the p13.1-p12 region of chromosome 17. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403229017 | A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403230010 | A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3437617018 | Congenital disorder of glycosylation type 1f (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437618011 | Congenital disorder of glycosylation type 1f | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437619015 | Carbohydrate deficient glycoprotein syndrome type If | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437620014 | Mannose-P-dolichol utilization defect 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437621013 | MPDU1-CDG - mannose-P-dolichol utilization defect 1 - congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3437622018 | Mannose-P-dolichol utilisation defect 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437623011 | MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR