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 |
3332194019 | Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332197014 | Preaxial deficiency, postaxial polydactyly, hypospadias syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332198016 | Guttmacher syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402942017 | Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402943010 | Guttmacher syndrome is an extremely rare syndrome characterised by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Congenital anomaly of toe | false | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Polydactyly of fingers | true | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Congenital undergrowth of partial lower limb | false | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Brachydactyly of hand | true | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 7 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 6 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Finding site | Finger structure | false | Inferred relationship | Some | 6 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 4 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Finding site | Entire digit of hand | false | Inferred relationship | Some | 7 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Finding site | Entire toe (body structure) | true | Inferred relationship | Some | 4 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 5 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Finding site | Finger structure | true | Inferred relationship | Some | 1 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 3 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Finding site | Entire digit of hand | true | Inferred relationship | Some | 3 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Congenital deformity of toe (disorder) | false | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) | Is a | Brachydactyly of toes | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)