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 |
| 3304330019 | Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304331015 | Camptodactyly with joint contracture and facial skeletal defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304332010 | Rozin Hertz Goodman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3304333017 | Rozin camptodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 749031000241114 | syndrome de camptodactylie-raideur articulaire-anomalies osseuses de la face (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 932041000172113 | syndrome de camptodactylie-raideur articulaire-anomalies osseuses de la face | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 990161000172115 | syndrome de Rozin-Hertz-Goodman | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3304334011 | The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 3 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | doigt de la main, sauf le pouce | false | Inferred relationship | Some | 3 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 2 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | Flexion deformity | false | Inferred relationship | Some | 2 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of joint | false | Inferred relationship | Some | ||
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 1 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 3 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 3 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | Structure of joint region | true | Inferred relationship | Some | 1 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal system structure of digit (body structure) | true | Inferred relationship | Some | 2 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | est un(e) (attribut) | Camptodactyly | true | Inferred relationship | Some | ||
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | est un(e) (attribut) | Arthrogryposis | true | Inferred relationship | Some | ||
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | Flexion deformity | false | Inferred relationship | Some | 4 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 4 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 4 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 6 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | doigt de la main, sauf le pouce | false | Inferred relationship | Some | 7 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR