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 |
3431017014 | Microspherophakia with metaphyseal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431018016 | Microspherophakia with metaphyseal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431019012 | Verloes Van Maldergem de Marneffe syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403242017 | Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Microspherophakia (disorder) | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 5 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Congenital abnormal roundness | false | Inferred relationship | Some | 5 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Congenital abnormal roundness | true | Inferred relationship | Some | 2 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | 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)