Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4016121015 | A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4016122010 | A congenital malformation of the digits characterized by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4012572019 | Brachydactyly type D (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4012574018 | Brachydactyly type D | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5600401000241116 | syndrome de brachydactylie de type D | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Autosomal dominant hereditary disorder (disorder) | true | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Finding of bone in hand | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Longitudinal deficiency of part of upper limb (disorder) | true | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Brachydactyly | true | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Associated morphology | Abnormally short growth (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Congenital malformation of thumb (disorder) | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Congenital deformity of toe (disorder) | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Deformity of thumb | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Congenital undergrowth of partial lower limb | true | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Finding of musculoskeletal structure of thumb | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Deformity of phalanx of toe | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Perodactylia of great toe | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Finding site | Bone structure of distal phalanx of thumb | true | Inferred relationship | Some | 1 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Finding site | Structure of distal phalanx of great toe | true | Inferred relationship | Some | 2 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Associated morphology | Abnormally short growth (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Congenital deformity of hand (disorder) | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Congenital deformity of musculoskeletal system (disorder) | false | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Abnormally short distal phalanx of thumb | true | Inferred relationship | Some | ||
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. | Is a | Abnormally short distal phalanx of great toe (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets