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 |
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 |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Mesomelic dysplasia | true | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Finding site | Skeletal system structure | false | Inferred relationship | Some | 1 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Clinical course | Progressive (qualifier value) | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 3 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Interprets | Limb length | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 4 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Finding site | Bone structure of fibula | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Congenital hypoplasia of fibula | true | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Is a | Congenital hypoplasia of ulna | true | Inferred relationship | Some | ||
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 5 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 5 | |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) | 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)