Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5309331019 | Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309332014 | Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309333016 | A rare developmental defect during embryogenesis with characteristics of the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR