Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697921012 | Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697922017 | Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697923010 | Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697924016 | Serpentine-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399790017 | A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399791018 | A rare syndromic oesophageal malformation characterised by severe congenital brachyoesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Is a | Congenital diaphragmatic hernia | true | Inferred relationship | Some | ||
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Is a | Congenital malformation syndrome (disorder) | true | Inferred relationship | Some | ||
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Is a | Congenital short esophagus (disorder) | true | Inferred relationship | Some | ||
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Is a | Congenital displacement of stomach | true | Inferred relationship | Some | ||
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Finding site | Oesophageal structure | true | Inferred relationship | Some | 1 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 1 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Finding site | Stomach structure | true | Inferred relationship | Some | 2 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Associated morphology | Malposition (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Finding site | Diaphragm structure | true | Inferred relationship | Some | 3 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Associated morphology | Hernial opening (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Finding site | Abdomen | false | Inferred relationship | Some | 4 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Finding site | Structure of vertebral column and/or spinal cord (body structure) | true | Inferred relationship | Some | 5 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome | 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)
FHIR