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 |
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 | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3866681000052114 | mesomelt dysplasisyndrom, Reinhardt Pfeiffer-typ | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
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 | kongenital dysplasi | 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 | kongenital dysplasi | 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
Description inactivation indicator reference set