Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5373324015 | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373325019 | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373326018 | Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373327010 | A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5373328017 | A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinemia. Additional clinical features may include heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Amino acid below reference range (finding) | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Disorder of sulphur-bearing amino acid metabolism | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 3 | |
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 5 | |
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Interprets | Homocysteine measurement | true | Inferred relationship | Some | 1 | |
| Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR