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 |
3324394016 | Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324396019 | Blepharoptosis, myopia, ectopia lentis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5401635017 | A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401636016 | A rare, genetic, lens position anomaly disease characterised by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Is a | Congenital ptosis (disorder) | true | Inferred relationship | Some | ||
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Associated morphology | Congenital prolapse | false | Inferred relationship | Some | 3 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Finding site | Upper eyelid structure | false | Inferred relationship | Some | 3 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Is a | Severe myopia | true | Inferred relationship | Some | ||
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Is a | Congenital ectopic lens | true | Inferred relationship | Some | ||
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Associated morphology | Congenital ectopia (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Finding site | Upper eyelid structure | true | Inferred relationship | Some | 1 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Associated morphology | Prolapse (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)