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 |
| 3431020018 | A very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. It has been reported in a father and his son. Bone dysplasia has characteristics of diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation and retinal detachment. The affected patients have normal mental development. | en | Definition | Inactive | 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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Microspherophakia (disorder) | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Finding site | Lens clear | false | Inferred relationship | Some | 5 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Finding site | Lens clear | false | Inferred relationship | Some | 3 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 3 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 4 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Associated morphology | Congenital abnormal roundness | false | Inferred relationship | Some | 5 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 1 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Associated morphology | Congenital abnormal roundness | true | Inferred relationship | Some | 2 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. | 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)
FHIR