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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 1 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 2 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | Congenital abnormal roundness | true | Inferred relationship | Some | 2 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | est un(e) (attribut) | Microspherophakia (disorder) | true | Inferred relationship | Some | ||
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 5 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 3 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 4 | |
Microspherophakia with metaphyseal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal roundness | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets