Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3774804011 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3774805012 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3774806013 | A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3774807016 | A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalised, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Truncal ataxia | true | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Movement disorder | true | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 2 | |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR