Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302366019 | Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302434013 | Blepharophimosis epicanthus inversus ptosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4165357012 | BPES - blepharophimosis epicanthus inversus ptosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302435014 | An ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302436010 | An ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Congenital blepharophimosis | true | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Epicanthus inversus (finding) | true | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Dermatosis of eyelid (disorder) | true | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Finding site | Skin structure of epicanthus inversus (body structure) | false | Inferred relationship | Some | 1 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Associated morphology | Narrowed structure (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Finding site | Structure of palpebral fissure | false | Inferred relationship | Some | 2 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Narrowing of palpebral fissure (disorder) | false | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Congenital anomaly of skin | true | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Congenital ptosis (disorder) | true | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Congenital deformity of face (disorder) | true | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Deformity of eyelid (disorder) | true | Inferred relationship | Some | ||
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Finding site | Upper eyelid structure | true | Inferred relationship | Some | 2 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Associated morphology | Prolapse (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 1 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Associated morphology | Narrowed structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Finding site | Skin structure of epicanthus inversus (body structure) | true | Inferred relationship | Some | 3 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 3 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Is a | Congenital deformity of soft tissue | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | True | Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets