Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3452172019 | Hemifacial microsomia with radial defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3452173012 | Hemifacial microsomia with radial defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3452174018 | Moeschler Clarren syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3452175017 | Oculoauriculovertebral spectrum with radial defects | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3452176016 | A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hemifacial microsomia with radial defect syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Hemifacial microsomia with radial defect syndrome (disorder) | Is a | Congenital anomaly of radius | true | Inferred relationship | Some | ||
Hemifacial microsomia with radial defect syndrome (disorder) | Is a | Hemifacial microsomia | true | Inferred relationship | Some | ||
Hemifacial microsomia with radial defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Finding site | Bone structure of radius (body structure) | true | Inferred relationship | Some | 2 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 2 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Finding site | Bone structure of face | false | Inferred relationship | Some | 2 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Finding site | Bone structure of radius (body structure) | false | Inferred relationship | Some | 3 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Finding site | Bone structure of face | true | Inferred relationship | Some | 1 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hemifacial microsomia with radial defect syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets