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 |
3307251014 | Epidermolysis bullosa simplex with pyloric atresia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3307254018 | Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3307255017 | Epidermolysis bullosa simplex co-occurrent with pyloric atresia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5401374019 | A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401375018 | A rare, inherited, epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anaemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Epidermolysis bullosa simplex with pyloric atresia | Is a | Pyloric atresia | true | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Is a | Epidermolysis bullosa simplex | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Epidermolysis bullosa simplex with pyloric atresia | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Epidermolysis bullosa simplex with pyloric atresia | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 4 | |
Epidermolysis bullosa simplex with pyloric atresia | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Epidermolysis bullosa simplex with pyloric atresia | Finding site | Pyloric structure of stomach | false | Inferred relationship | Some | 4 | |
Epidermolysis bullosa simplex with pyloric atresia | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Epidermolysis bullosa simplex with pyloric atresia | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 5 | |
Epidermolysis bullosa simplex with pyloric atresia | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 6 | |
Epidermolysis bullosa simplex with pyloric atresia | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with pyloric atresia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with pyloric atresia | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with pyloric atresia | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with pyloric atresia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with pyloric atresia | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with pyloric atresia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with pyloric atresia | Finding site | Pyloric structure of stomach | true | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with pyloric atresia | Is a | Autosomal recessive epidermolysis bullosa simplex | true | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with pyloric atresia | Associated morphology | Atresia (morphologic abnormality) | 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)