Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4009632013 | 3q23 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4009633015 | Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4009634014 | Blepharophimosis epicanthus inversus ptosis syndrome plus | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5244189016 | BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408880013 | A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408881012 | A rare disorder of the ocular adnexa characterised by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. | 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 plus (disorder) | Is a | Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | true | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Narrowed structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Deletion of part of long arm of chromosome 3 (disorder) | true | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Deformity of eyelid (disorder) | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Congenital deformity of face (disorder) | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Congenital blepharophimosis | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Skin structure of epicanthus inversus (body structure) | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Chromosome pair 3 | false | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Upper eyelid structure | true | Inferred relationship | Some | 5 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Prolapse (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR