Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3304727011 | Absence deformity of leg and congenital cataract syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304728018 | Absence deformity of leg and congenital cataract syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401222015 | A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401223013 | A very rare congenital limb malformation syndrome characterised by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Absence deformity of leg and congenital cataract syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Absence deformity of leg and congenital cataract syndrome (disorder) | Is a | Congenital anomaly of lower limb (disorder) | true | Inferred relationship | Some | ||
| Absence deformity of leg and congenital cataract syndrome (disorder) | Is a | Congenital absence | false | Inferred relationship | Some | ||
| Absence deformity of leg and congenital cataract syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 2 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 2 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Finding site | Lower limb structure | true | Inferred relationship | Some | 2 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Is a | Absence of lower limb (finding) | true | Inferred relationship | Some | ||
| Absence deformity of leg and congenital cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Absence deformity of leg and congenital cataract syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR