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 |
3324397011 | This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3887821000052114 | syndrom med blefaroptos, myopi och linsektopi | 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 |
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 | kongenital prolaps | 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 |
This concept is not in any reference sets