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 |
3332190011 | Syndrome with characteristics of progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
12719291000172116 | syndrome GEMSS (glaucoma, ectopia lentis, microspherophakia, stiff joints, short stature) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
12719301000172115 | syndrome de glaucome, ectopie du cristallin, sphérophakie, raideur articulaire et petite taille | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4849861000172114 | syndroom van glaucoom, ectopia lentis, microsferofakie, stijve gewrichten en kleine gestalte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4849871000172117 | GEMSS-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
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 | true | 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 | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets