Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2995571013 | Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2995610010 | Fryns syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2995721013 | Diaphragmatic hernia, abnormal face and distal limb anomalies | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | false | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Disorder of diaphragm (disorder) | false | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Diaphragm structure | false | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 4 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 5 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 5 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 4 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Congenital hypoplasia of lung | true | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Diaphragm structure | true | Inferred relationship | Some | 3 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Associated morphology | Hernial opening (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Congenital diaphragmatic hernia | true | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Structure of organ within abdominopelvic cavity (body structure) | false | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Congenital anomaly of abdomen | false | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Abdomen | false | Inferred relationship | Some | 2 | |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Finding site | Intra-abdominopelvic structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Microphthalmos due to Fryns syndrome (disorder) | Due to | True | Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR