Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302855017 | Rhizomelic dysplasia of Patterson Lowry type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302856016 | Rhizomelic dysplasia of Patterson Lowry type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302857013 | Rhizomelic dysplasia Patterson Lowry type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400933015 | Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400934014 | Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterised by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Skeletal dysplasia | false | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Rhizomelic dysplasia (disorder) | true | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Finding of bone of upper limb | true | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Congenital anomaly of upper limb | true | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Interprets | Limb length | true | Inferred relationship | Some | 2 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 3 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) | Finding site | Bone structure of upper limb (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR