Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3314058013 | X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3314059017 | X-linked intellectual disability with ataxia and apraxia syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3314060010 | This syndrome has characteristics of ataxia, apraxia, intellectual deficit and or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability with ataxia and apraxia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
X-linked intellectual disability with ataxia and apraxia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
X-linked intellectual disability with ataxia and apraxia syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 5 | |
X-linked intellectual disability with ataxia and apraxia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | Apraxia | true | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | Cerebellar ataxia | false | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Finding site | Structure of musculoskeletal system | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with ataxia and apraxia syndrome | Finding site | Cerebellar structure | false | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked intellectual disability with ataxia and apraxia syndrome | Is a | Hereditary ataxia | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set