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 |
3332186014 | Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 | Only initial character 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 |
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 |
602161000274112 | GEMSS-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3393141001000111 | Glaukom-Ektopia lentis-Mikrosphärophakie-steife Gelenke-Kleinwuchs-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6266051000241111 | syndrome GEMSS (glaucoma, ectopia lentis, microspherophakia, stiff joints, short stature) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6266061000241114 | 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) | SNOMED CT Switzerland NRC maintained Module |
6266051000241111 | syndrome GEMSS (glaucoma, ectopia lentis, microspherophakia, stiff joints, short stature) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6266061000241114 | 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) | SNOMED CT Switzerland NRC maintained Module |
602161000274112 | GEMSS-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3393141001000111 | Glaukom-Ektopia lentis-Mikrosphärophakie-steife Gelenke-Kleinwuchs-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)