Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3659587014 | Russell Weaver Bull syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3659589012 | Axial mesodermal dysplasia spectrum (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3659590015 | Axial mesodermal dysplasia spectrum | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3659591016 | Blastogenesis defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3659588016 | A rare developmental defect during embryogenesis syndrome with characteristics of congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (for example preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia) along with anal anomalies such as anal atresia and rectovesical fistula. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Axial mesodermal dysplasia spectrum (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Axial mesodermal dysplasia spectrum (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Axial mesodermal dysplasia spectrum (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Axial mesodermal dysplasia spectrum (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Axial mesodermal dysplasia spectrum (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR