Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5307052013 | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5307053015 | Cerebellar ataxia, brain abnormalities, cardiac conduction defects syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5307054014 | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5307055010 | Neurodevelopmental delay, hypotonia, cerebellar atrophy, cardiac conduction defects syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5307056011 | A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Poor muscle tone (finding) | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Some | 4 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 1 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Is a | Decreased muscle tone (finding) | true | Inferred relationship | Some | ||
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 5 | |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Interprets | Muscle tone | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR