Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3332212014 | Intellectual disability, developmental delay, contracture syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3332213016 | Intellectual disability, developmental delay, contracture syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3332214010 | Foot contracture, muscle atrophy, oculomotor apraxia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3332215011 | Wieacker Wolff syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3332216012 | A severe X-linked recessive neurodevelopmental disorder with the association of arthrogryposis multiplex congenita and intellectual disability. The syndrome has been reported in 5 families to date, with fewer than 30 affected individuals described. Affected patients are male, while carrier females are often asymptomatic. Facial weakness (ptosis) and bulbar weakness (feeding difficulty), characteristic dysmorphic facial and skeletal abnormalities have been reported. Other neurological signs may include spasticity and seizures. Heterozygous female carriers may also be affected, but to a lesser degree (intellectual disability, distal muscle weakness, camptodactyly, joint contractures, and pes equinovarus). Caused by mutations in the ZC4H2 gene (Xq11.1) that is presumed to play a role in neuronal function during fetal growth. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, developmental delay, contracture syndrome | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Intellectual disability, developmental delay, contracture syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, developmental delay, contracture syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, developmental delay, contracture syndrome | Finding site | Joint structure | false | Inferred relationship | Some | 2 | |
| Intellectual disability, developmental delay, contracture syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, developmental delay, contracture syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Intellectual disability, developmental delay, contracture syndrome | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
| Intellectual disability, developmental delay, contracture syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Intellectual disability, developmental delay, contracture syndrome | Interprets | Range of joint movement | true | Inferred relationship | Some | 3 | |
| Intellectual disability, developmental delay, contracture syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
| Intellectual disability, developmental delay, contracture syndrome | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
| Intellectual disability, developmental delay, contracture syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| Intellectual disability, developmental delay, contracture syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Intellectual disability, developmental delay, contracture syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 5 | |
| Intellectual disability, developmental delay, contracture syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Intellectual disability, developmental delay, contracture syndrome | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Is a | Amyoplasia congenita disruptive sequence | true | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Is a | Muscle atrophy | true | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Intellectual disability, developmental delay, contracture syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Intellectual disability, developmental delay, contracture syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Intellectual disability, developmental delay, contracture syndrome | Finding site | Joint structure | false | Inferred relationship | Some | 4 | |
| Intellectual disability, developmental delay, contracture syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Intellectual disability, developmental delay, contracture syndrome | Associated morphology | Atrophy | false | Inferred relationship | Some | 3 | |
| Intellectual disability, developmental delay, contracture syndrome | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 3 | |
| Intellectual disability, developmental delay, contracture syndrome | Associated morphology | Contracture | false | Inferred relationship | Some | 4 | |
| Intellectual disability, developmental delay, contracture syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| Intellectual disability, developmental delay, contracture syndrome | Finding site | Joint structure | false | Inferred relationship | Some | 5 | |
| Intellectual disability, developmental delay, contracture syndrome | Is a | Intellectual disability | 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
FHIR