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 |
3332073019 | This syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3332074013 | This syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalised tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3897091000052118 | syndrom med medfödd ektopisk lins, korioretinal dystrofi och myopi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
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 | åderhinna och/eller näthinna, struktur | 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 | åderhinna och/eller näthinna, struktur | 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 |
This concept is not in any reference sets