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 |
755711000241119 | syndrome de camptodactylie-dysplasie osseuse (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
934451000172112 | camptodactylie de Goodman | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
989891000172114 | syndrome de camptodactylie-dysplasie osseuse | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3321499014 | An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted. The syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. 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) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of digit of hand | true | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Flexion deformity | false | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | doigt de la main, sauf le pouce | true | Inferred relationship | Some | 2 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 4 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of finger | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | déformation en flexion de la main | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | constatation à propos de la structure musculosquelettique d'un doigt de la main | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Congenital deformity of hand (disorder) | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 7 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Camptodactyly | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Congenital abnormal shape of digit | false | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Chondrodysplasia | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | anomalie morphologique congénitale | false | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital flexion deformity | false | Inferred relationship | Some | 9 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 9 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | doigt de la main, sauf le pouce | false | Inferred relationship | Some | 8 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 6 | |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets