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 |
3321496019 | Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321497011 | Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321498018 | Goodman camptodactyly | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402422015 | An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402423013 | An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 7 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Camptodactyly | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Congenital abnormal shape of digit | false | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Chondrodysplasia (disorder) | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 8 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Congenital flexion deformity | false | Inferred relationship | Some | 9 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 9 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Finger structure | false | Inferred relationship | Some | 8 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 6 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Musculoskeletal structure of digit of hand | true | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Flexion deformity | false | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Finding site | Finger structure | true | Inferred relationship | Some | 2 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Congenital anomaly of finger | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Associated morphology | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Flexion deformity of hand | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Finding of musculoskeletal structure of digit of hand | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | Congenital deformity of hand (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)