Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
400936017 | Congenital exostosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
660998019 | Congenital exostosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
1454351000005119 | Kongenit eksostose | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Multiple congenital exostosis | Is a | False | Congenital exostosis | Inferred relationship | Some | |
Infantile cortical hyperostosis | Is a | True | Congenital exostosis | Inferred relationship | Some | |
Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Is a | True | Congenital exostosis | Inferred relationship | Some |
This concept is not in any reference sets