Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5399938019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399939010 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5036043012 | Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5036044018 | Diaphragmatic hernia, short bowel, asplenia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
7753591000241116 | syndrome de hernie diaphragmatique, grêle court et asplénie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
7753601000241111 | syndrome de hernie diaphragmatique, intestin court et asplénie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3412371001000119 | Zwerchfellhernie-Kurzdarm-Asplenie-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Is a | Congenital diaphragmatic hernia | true | Inferred relationship | Some | ||
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Is a | Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive. | true | Inferred relationship | Some | ||
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Is a | Genetic disease | true | Inferred relationship | Some | ||
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Is a | Congenital absence of spleen | true | Inferred relationship | Some | ||
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Finding site | Entire small intestine | true | Inferred relationship | Some | 1 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Associated morphology | Abnormally short growth (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Finding site | Diaphragm structure | true | Inferred relationship | Some | 2 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Associated morphology | Hernial opening (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Finding site | This is considered the most commonly used clinical variant of 'abdomen' and relates to the space and content within the abdominopelvic cavity plus the anterior and lateral abdominal wall. The volume is bounded by, but excludes: superiorly the thoracic diaphragm; inferiorly the pelvic diaphragm; and posteriorly the posterior wall of the abdomen proper: The pelvic component consists of the cavity of the true pelvis, which is bounded by, but excludes, the pelvic wall. Anteriorly this volume is bounded and includes the anterior abdominal (including the lateral abdominal wall). | false | Inferred relationship | Some | 3 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Finding site | Splenic structure | true | Inferred relationship | Some | 4 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Finding site | Face structure | true | Inferred relationship | Some | 5 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 5 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | Finding site | This structure comprises the space and content within the boundaries of the abdominopelvic cavity but excludes the walls that define and enclose the space. Previously SNOMED CT used the word 'compartment' to describe structures comprising the cavity and content but FMA has used the same word to include cavity, content and wall. As a consequence, the preferred notation is intra-abdominopelvic structure as this more clearly excludes the 'wall' structures. The intra-abdominopelvic structure is bounded by, but excludes the following 'wall' structures: superiorly the thoracic diaphragm; inferiorly the pelvic diaphragm; anteriorly the anterior abdominal wall (including the lateral abdominal wall); and posteriorly the wall of the abdominal proper segment of trunk. The pelvic component consists of the cavity and content of the true pelvis, which is bounded by the pelvic wall. Note, the structures that form the boundaries are excluded. | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)