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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 3 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | est un(e) (attribut) | Congenital glaucoma (disorder) | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | est un(e) (attribut) | Microspherophakia (disorder) | true | Inferred relationship | Some | ||
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal shape | false | Inferred relationship | Some | 4 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 4 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 5 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 6 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal roundness | false | Inferred relationship | Some | 5 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 6 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 2 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal roundness | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets