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 |
| 5400915014 | A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400916010 | A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. 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) | Is a | Camptodactyly | true | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Mesomelic dysplasia | true | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Flexion deformity | false | Inferred relationship | Some | 7 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 7 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Finger structure | false | Inferred relationship | Some | 9 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 9 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 10 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 8 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 8 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 6 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 10 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 1 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 2 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Finger structure | 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) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | 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) | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 2 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | 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) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Bone structure | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Skeletal system structure | false | Inferred relationship | Some | 3 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Clinical course | Progressive (qualifier value) | false | Inferred relationship | Some | 4 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Musculoskeletal system structure of digit (body structure) | true | Inferred relationship | Some | 2 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Associated morphology | 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) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 6 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Interprets | Limb length | true | Inferred relationship | Some | 4 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 3 | |
| Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR