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 |
3302739016 | Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302740019 | Mesomelic dysplasia with cleft palate and camptodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302742010 | Reardon Hall Slaney syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302743017 | This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | doigt de la main, sauf le pouce | false | Inferred relationship | Some | 3 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Flexion deformity | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 3 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 4 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Skeletal system structure | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal system structure of digit (body structure) | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | false | Inferred relationship | Some | 5 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 6 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | Camptodactyly | true | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | fente palatine | true | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | Mesomelic dysplasia | true | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Flexion deformity | false | Inferred relationship | Some | 7 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 7 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 10 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | doigt de la main, sauf le pouce | false | Inferred relationship | Some | 9 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 9 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 10 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 8 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 8 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 6 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of internal part of mouth | false | Inferred relationship | Some | 10 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 1 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets