Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3322003013 | A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402464015 | Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321998013 | Coxopodopatellar syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321999017 | Coxopodopatellar syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322000011 | Ischiopatellar dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322001010 | Scott Taor syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322002015 | Small patella syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Congenital anomaly of lower limb | false | Inferred relationship | Some | ||
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Dysostosis | true | Inferred relationship | Some | ||
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Finding site | Bone structure of patella | true | Inferred relationship | Some | 1 | |
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Disorder of patella (disorder) | false | Inferred relationship | Some | ||
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Patella dysplasia | true | Inferred relationship | Some | ||
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. | Is a | Developmental hereditary disorder | 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