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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | est un(e) (attribut) | True | Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Inferred relationship | Some |
Reference Sets