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 |
| 3703345013 | A rare genetic syndromic intellectual disability disorder with characteristics of 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) | localisation d'une constatation (attribut) | Structure of joint region | true | Inferred relationship | Some | 1 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 2 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | a pour interprétation (attribut) | 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) | est un(e) (attribut) | Contracture of multiple joints | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | trouble moteur | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | Chronic mental disorder | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | Contracture of joint | false | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 1 | |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | arthropathie chronique | false | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR