Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048348017 | Ring finger protein 13-related severe early-onset epileptic encephalopathy | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5048349013 | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5048350013 | RNF13-related severe early-onset epileptic encephalopathy | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Is a | Congenital microcephaly | true | Inferred relationship | Existential restriction modifier | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Is a | Developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Is a | Epileptic encephalopathy | true | Inferred relationship | Existential restriction modifier | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Is a | Genetic disease | true | Inferred relationship | Existential restriction modifier | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Is a | Multiple system malformation syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Finding site | Structure of cerebrum | true | Inferred relationship | Existential restriction modifier | 3 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Interprets | Birth head circumference | true | Inferred relationship | Existential restriction modifier | 2 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 2 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Finding site | Head structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Associated morphology | Congenital smallness | true | Inferred relationship | Existential restriction modifier | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR