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 |
| 760091000241111 | syndrome de convulsions-déficience intellectuelle par hydroxylysinurie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 956701000172114 | syndrome de convulsions-déficience intellectuelle par hydroxylysinurie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | est un(e) (attribut) | Disorder of lysine and hydroxylysine metabolism | true | Inferred relationship | Some | ||
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR