Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048348017 | Ring finger protein 13-related severe early-onset epileptic encephalopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5048349013 | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5048350013 | RNF13-related severe early-onset epileptic encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5048351012 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, infantile-onset epileptic encephalopathy and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge and small chin. Brain imaging may show thin corpus callosum and delayed myelination. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| RNF13-related severe early-onset epileptic encephalopathy | Is a | Congenital microcephaly | true | Inferred relationship | Some | ||
| RNF13-related severe early-onset epileptic encephalopathy | Is a | Developmental delay | true | Inferred relationship | Some | ||
| RNF13-related severe early-onset epileptic encephalopathy | Is a | Epileptic encephalopathy | true | Inferred relationship | Some | ||
| RNF13-related severe early-onset epileptic encephalopathy | Is a | Genetic disease | true | Inferred relationship | Some | ||
| RNF13-related severe early-onset epileptic encephalopathy | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| RNF13-related severe early-onset epileptic encephalopathy | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 3 | |
| RNF13-related severe early-onset epileptic encephalopathy | Interprets | Birth head circumference | true | Inferred relationship | Some | 2 | |
| RNF13-related severe early-onset epileptic encephalopathy | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| RNF13-related severe early-onset epileptic encephalopathy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| RNF13-related severe early-onset epileptic encephalopathy | Finding site | Structure of head | true | Inferred relationship | Some | 1 | |
| RNF13-related severe early-onset epileptic encephalopathy | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
| RNF13-related severe early-onset epileptic encephalopathy | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR