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 |
4634492010 | Gershoni Baruch syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4634494011 | Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4634495012 | Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4634493017 | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4635740010 | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalised syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Is a | Congenital omphalocele | true | Inferred relationship | Some | ||
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Finding site | Umbilical structure | true | Inferred relationship | Some | 1 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Associated morphology | Hernial opening (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Finding site | Structure of organ within abdominopelvic cavity (body structure) | false | Inferred relationship | Some | 2 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Finding site | Limb structure | true | Inferred relationship | Some | 3 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Finding site | Face structure | true | Inferred relationship | Some | 4 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | 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