Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3703339017 | Familial omphalocele syndrome with facial dysmorphism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3703340015 | Familial omphalocele syndrome with facial dysmorphism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5404949013 | Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404950013 | Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterised by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3703339017 | Familial omphalocele syndrome with facial dysmorphism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3703340015 | Familial omphalocele syndrome with facial dysmorphism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3703341016 | A rare genetic developmental defect during embryogenesis with characteristics of omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404949013 | Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404950013 | Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterised by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3443851001000119 | Syndrom der Omphalozele mit Gesichtsdysmorphien, familiäre Form | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
898811000172119 | syndrome omphalocèle familial avec dysmorphie faciale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
898811000172119 | syndrome omphalocèle familial avec dysmorphie faciale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3443851001000119 | Syndrom der Omphalozele mit Gesichtsdysmorphien, familiäre Form | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)