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 |
6955881000146110 | syndroom van retinadegeneratie, nanoftalmie en glaucoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6955891000146112 | syndroom van retinadegeneratie, nanophthalmos en glaucoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7537911000146113 | syndroom van retinadegeneratie, nanophthalmos en glaucoom (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
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) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Is a | Degeneration of retina | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Is a | Congenital glaucoma | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Is a | Nanophthalmia (disorder) | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Finding site | geheel oog (lichaamsstructuur) | false | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Associated morphology | Pigmentary degeneration | false | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Finding site | Retinal structure | false | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 3 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Finding site | geheel oog (lichaamsstructuur) | false | Inferred relationship | Some | 3 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Associated morphology | Pigmentary degeneration | true | Inferred relationship | Some | 1 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 1 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Is a | Congenital anomaly of retina | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Occurrence | Congenital | 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) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Finding site | Entire eye proper | true | Inferred relationship | Some | 2 | |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets