Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3321092011 | Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321093018 | Arthrogryposis multiplex congenita and whistling face syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321094012 | Illum syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321095013 | An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 894291000172119 | syndrome d'arthrogrypose multiple congénitale-face de siffleur | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 936531000172112 | syndrome d'Illum | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 5 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Is a | Amyoplasia congenita disruptive sequence | false | Inferred relationship | Some | ||
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 4 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 5 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 4 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 2 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 3 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Is a | Arthrogryposis multiplex congenita | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR