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) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Is a | Congenital deformity | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Is a | Robin sequence | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Is a | Deletion of part of long arm of chromosome 5 (disorder) | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Is a | Contracture of joint | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 5 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 5 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Finding site | Chromosome pair 5 | true | Inferred relationship | Some | 1 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 2 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Associated morphology | Contracture | 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) | Is a | Joint deformity | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Is a | Lesion of joint | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Is a | Congenital anomaly of joint | true | Inferred relationship | Some | ||
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) | Finding site | Joint structure | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR