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 |
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 | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4872731000172118 | syndroom van Verloes-Van Maldergem-De Marneffe | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4872741000172113 | syndroom van microsferofakie en metafysaire dysplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
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 | true | 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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets