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 |
| 3321088016 | Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321089012 | Arthrogryposis with renal dysfunction and cholestasis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321090015 | ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3321091016 | A multisystem disorder with characteristics of neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Mutations in the VPS33B gene (15q26.1) have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Due to | Denervation atrophy of muscle | true | Inferred relationship | Some | 3 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Is a | Inherited disorder of bilirubin metabolism | true | Inferred relationship | Some | ||
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Is a | Neurogenic arthrogryposis multiplex congenita (disorder) | true | Inferred relationship | Some | ||
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 4 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 4 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Is a | Inherited arthrogryposis | false | Inferred relationship | Some | ||
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 1 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 2 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 1 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Has interpretation | Absent | false | Inferred relationship | Some | 4 | |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Interprets | Range of joint movement | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR