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 |
3332070016 | Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332071017 | Ectopia lentis, chorioretinal dystrophy, myopia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402933012 | A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402934018 | A rare, genetic, ophthalmic disorder characterised by the association of lens (ectopia and cataracts) and retinal (generalised tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Degenerative disorder of eye | false | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Congenital ectopic lens | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Chorioretinal disorder (disorder) | false | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Finding site | Choroidal and/or retinal structures | false | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Associated morphology | Congenital ectopia (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Associated morphology | Congenital ectopia (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Congenital anomaly of posterior segment of eye | false | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Finding site | Choroidal and/or retinal structures | false | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Retinal dystrophy | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Is a | Congenital chorioretinal degeneration | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Finding site | Choroidal structure | true | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)