Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3332186014 | Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332187017 | Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332188010 | GEMSS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3332189019 | GEMSS (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402938015 | A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402939011 | A rare genetic, syndromic eye disorder characterised by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Is a | Congenital glaucoma | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Is a | Microspherophakia (disorder) | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Associated morphology | Congenital abnormal shape | false | Inferred relationship | Some | 4 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 4 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 5 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 6 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Associated morphology | Congenital abnormal roundness | false | Inferred relationship | Some | 5 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 6 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Associated morphology | Congenital abnormal roundness | true | Inferred relationship | Some | 2 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 3 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 3 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)