Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4635488014 | Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4635490010 | Lethal hydranencephaly, diaphragmatic hernia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4635489018 | A rare genetic lethal multiple congenital anomalies syndrome with characteristics of hydranencephaly and diaphragmatic hernia along with macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Is a | Congenital macrocephaly | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome | Is a | Congenital diaphragmatic hernia | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome | Is a | Combined malformation of central nervous system and skeletal muscle | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome | Is a | Hydranencephaly | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome | Interprets | Head circumference | true | Inferred relationship | Some | 5 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 5 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Finding site | Diaphragm structure | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Associated morphology | Hernial opening | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Finding site | Structure of abdomen | false | Inferred relationship | Some | 2 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Associated morphology | Hernia | true | Inferred relationship | Some | 2 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Finding site | Cerebral hemisphere structure | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Finding site | Structure of head | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Associated morphology | Enlargement | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome | Finding site | Intra-abdominopelvic structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Respiratory finding reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set