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) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | est un(e) (attribut) | retard de développement | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | est un(e) (attribut) | Epileptic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 3 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 2 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | morphologie associée (attribut) | Congenital smallness | true | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR