Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4635490010 | Lethal hydranencephaly, diaphragmatic hernia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Is a | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Is a | Congenital diaphragmatic hernia | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Is a | Combined malformation of central nervous system and skeletal muscle (disorder) | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Is a | Hydranencephaly | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 5 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 5 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Finding site | Diaphragm structure | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Associated morphology | Hernial opening (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Finding site | Abdomen | false | Inferred relationship | Some | 2 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Finding site | Cerebral hemisphere structure (body structure) | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Finding site | Intra-abdominopelvic structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets