Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3703342011 | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3703343018 | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3703344012 | Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404951012 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404952017 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Motor dysfunction | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Contracture of joint | false | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Chronic arthropathy | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 1 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 1 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 2 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Contracture of multiple joints | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Is a | Chronic disease | false | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Finding site | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 6 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR