Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3332071017 | Ectopia lentis, chorioretinal dystrophy, myopia syndrome | en | Synonym | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Congenital anomaly of posterior segment of eye | false | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Finding site | Choroidal and/or retinal structures | false | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Retinal dystrophy | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Finding site | Retinal structure | true | Inferred relationship | Some | 1 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Congenital chorioretinal degeneration | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Finding site | Choroidal structure | true | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Degenerative disorder of eye | false | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Congenital subluxation of lens | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Chorioretinal disorder | false | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Associated morphology | Dystrophy | false | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Finding site | Choroidal and/or retinal structures | false | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Associated morphology | Congenital ectopia | false | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 3 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Associated morphology | Congenital ectopia | true | Inferred relationship | Some | 2 | |
Ectopia lentis, chorioretinal dystrophy, myopia syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set