Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5036032016 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5036033014 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5036034015 | SYT1-related neurodevelopmental disorder | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5036035019 | Synaptotagmin 1-related neurodevelopmental disorder | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5036036018 | Baker Gordon syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5036037010 | A rare genetic neurological disorder with characteristics of infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioural abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5036038017 | A rare genetic neurological disorder with characteristics of infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Decreased muscle tone | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Movement disorder | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Interprets | Movement | true | Inferred relationship | Some | 5 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Some | 4 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Interprets | Muscle tone | true | Inferred relationship | Some | 2 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Finding site | Structure of visual system | true | Inferred relationship | Some | 1 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 6 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 7 | |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR