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 |
3302749018 | Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400917018 | A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400918011 | A rare disorder characterised by disproportionate short stature from birth with dysplasia of the ulna and fibula. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302744011 | Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302745012 | Mesomelic dysplasia of hypoplastic ulna and fibula type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302746013 | Mesomelic dwarfism Reinhardt-Pfeiffer type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3302747016 | Reinhardt Pfeiffer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302748014 | Reinhardt Pfeiffer mesomelic dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Mesomelic dysplasia (disorder) | true | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Finding site | Skeletal system structure | false | Inferred relationship | Some | 1 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Clinical course | Progressive | false | Inferred relationship | Some | 2 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Interprets | Height / growth measure | false | Inferred relationship | Some | 3 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Interprets | Limb length | true | Inferred relationship | Some | 2 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Interprets | Body height measure | true | Inferred relationship | Some | 4 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Finding site | Bone structure of fibula | true | Inferred relationship | Some | 3 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Congenital hypoplasia of fibula | true | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Is a | Congenital hypoplasia of ulna | true | Inferred relationship | Some | ||
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 1 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 5 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 5 | |
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)