Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3429730013 | Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3429731012 | Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3429732017 | Faulk Epstein Jones syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3429733010 | Syndrome with characteristics of congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Congenital anomaly of spine | false | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Congenital ptosis (disorder) | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 2 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Finding site | Structure of lumbosacral vertebrae | false | Inferred relationship | Some | 2 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Associated morphology | Congenital prolapse | false | Inferred relationship | Some | 3 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Finding site | Upper eyelid structure | false | Inferred relationship | Some | 3 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Finding site | Upper eyelid structure | true | Inferred relationship | Some | 1 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Disorder of vertebral column (disorder) | false | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Associated morphology | Prolapse (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Congenital anomaly of musculoskeletal structure of trunk | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Congenital fusion of spine | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Congenital anomaly of lower trunk | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Finding site | Bone structure of vertebra of lumbosacral junction | true | Inferred relationship | Some | 2 | |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Is a | Finding of vertebra | true | Inferred relationship | Some | ||
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets