Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5361750010 | Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5361751014 | Cleft palate, congenital heart defect, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5361752019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR