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 |
| 3428356014 | This syndrome has characteristics of hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3982551000052113 | kramper och intellektuell funktionsnedsättning orsakat av hydroxilysin i urinen | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR