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 |
| 6772101000146114 | syndroom van convulsies en mentale retardatie door hydroxylysinurie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7572501000146115 | syndroom van convulsies en verstandelijke handicap door hydroxylysinurie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12273381000146119 | syndroom van epileptische aanvallen en verstandelijke beperking door hydroxylysinurie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12274071000146115 | syndroom van epileptische aanvallen en verstandelijke beperking door hydroxylysinurie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12274081000146118 | syndroom van insulten en verstandelijke beperking door hydroxylysinurie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 |
| 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 | mentale retardatie | 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 | |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR