Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5033744019 | 5q23 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5033746017 | Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5033748016 | Joint contractures, developmental delay, Pierre Robin syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5033747014 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate), joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices and ocular abnormalities among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | retard de développement | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | anomalie morphologique congénitale | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | Robin sequence (disorder) | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | Deletion of part of long arm of chromosome 5 (disorder) | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | Contracture of joint | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 5 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 5 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | localisation d'une constatation (attribut) | Chromosome pair 5 (cell structure) | true | Inferred relationship | Some | 1 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | morphologie associée (attribut) | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | localisation d'une constatation (attribut) | Long arm of chromosome (cell structure) | true | Inferred relationship | Some | 2 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | morphologie associée (attribut) | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | Joint deformity | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | Lesion of joint | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of joint | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR