Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723463017 | Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723464011 | Contiguous ABCD1 DXS1357E deletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723466013 | Zellweger-like contiguous gene deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723468014 | CADDS - contiguous ABCD1 DXS1357E deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723467016 | A rare genetic neurometabolic disease with characteristics of severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (for example blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed central nervous system myelination and ventriculomegaly). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4204881000052111 | syndrom med angränsande ABCD1-DXS1357E-deletion | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Finding site | Liver structure | true | Inferred relationship | Some | 2 | |
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Is a | Metabolic and genetic disorder affecting the liver | true | Inferred relationship | Some | ||
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Is a | Loss of single peroxisomal function | true | Inferred relationship | Some | ||
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR