Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757863014 | Hecht Scott syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757865019 | FATCO syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757868017 | Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757869013 | Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757871013 | A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408489019 | A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408490011 | A rare, genetic, congenital limb malformation syndrome characterised by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Associated morphology | Abnormally short | true | Inferred relationship | Some | 1 | |
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Is a | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Finding site | Entire limb | true | Inferred relationship | Some | 1 | |
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Is a | Congenital anomaly of limb | false | Inferred relationship | Some | ||
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Is a | Congenital deformity | false | Inferred relationship | Some | ||
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR