Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3703339017 | Familial omphalocele syndrome with facial dysmorphism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3703340015 | Familial omphalocele syndrome with facial dysmorphism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5404949013 | Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404950013 | Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterised by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Is a | Congenital anomaly of intestinal tract | true | Inferred relationship | Some | ||
Familial omphalocele syndrome with facial dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial omphalocele syndrome with facial dysmorphism (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Familial omphalocele syndrome with facial dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Is a | Congenital omphalocele | true | Inferred relationship | Some | ||
Familial omphalocele syndrome with facial dysmorphism (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Familial omphalocele syndrome with facial dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 1 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Finding site | Intestinal structure | true | Inferred relationship | Some | 1 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Finding site | Umbilical structure | true | Inferred relationship | Some | 3 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Associated morphology | Hernial opening (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Finding site | Structure of abdominopelvic viscus | false | Inferred relationship | Some | 4 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Associated morphology | Protrusion | true | Inferred relationship | Some | 1 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Finding site | Structure of organ within abdominopelvic cavity (body structure) | false | Inferred relationship | Some | 4 | |
Familial omphalocele syndrome with facial dysmorphism (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Familial omphalocele syndrome with facial dysmorphism (disorder) | Finding site | Intra-abdominopelvic structure | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)