Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048349013 | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048350013 | RNF13-related severe early-onset epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Is a | Epileptic encephalopathy (disorder) | false | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 3 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 2 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 4 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR