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 |
| 3428354012 | Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428355013 | Seizures and intellectual disability due to hydroxylysinuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428357017 | Seizures and intellectual disability due to hydroxylysinuria syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5403185016 | A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403186015 | A rare inborn error of metabolism characterised by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Is a | Disorder of lysine and hydroxylysine metabolism | true | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Has interpretation | Impaired | 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)
FHIR