Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module | Reference Sets |
3464760016 | Craniosynostosis fibular aplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
3464761017 | Craniosynostosis fibular aplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
3464762012 | Lowry syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Acceptable (foundation metadata concept) |
3464763019 | An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets