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 |
3424860014 | Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424861013 | Retinal degeneration, nanophthalmos, glaucoma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424862018 | Mackay Shek Carr syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424863011 | Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | morphologie associée (attribut) | Pigmentary degeneration | true | Inferred relationship | Some | 1 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 1 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of retina (disorder) | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | est un(e) (attribut) | dégénérescence de la rétine | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | est un(e) (attribut) | Congenital glaucoma (disorder) | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | est un(e) (attribut) | Nanophthalmia (disorder) | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | localisation d'une constatation (attribut) | Entire eye | true | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | morphologie associée (attribut) | Pigmentary degeneration | false | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | false | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 3 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | localisation d'une constatation (attribut) | Entire eye | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set