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 |
| 3322017016 | Craniofacial ulnar renal syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322018014 | Craniofacial ulnar renal syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322019018 | 3MC syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322020012 | A rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes. The syndrome has characteristics of a spectrum of developmental anomalies that include distinctive facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3921521000052115 | kraniofacialt ulnart renalt syndrom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Craniofacial ulnar renal syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Craniofacial ulnar renal syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Craniofacial ulnar renal syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 1 | |
| Craniofacial ulnar renal syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Craniofacial ulnar renal syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Craniofacial ulnar renal syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Craniofacial ulnar renal syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR