Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697264014 | Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697265010 | Lethal neonatal spasticity, epileptic encephalopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697266011 | Lethal neonatal rigidity, multifocal seizure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697267019 | A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697268012 | A rare genetic neurological disorder characterised by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently and make no developmental progress. Frequent spontaneous apnoea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | Spasticity | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | syndrome paralytique (trouble) | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | Epileptic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | affection d'un muscle squelettique | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | est un(e) (attribut) | Convulsions in the newborn | true | Inferred relationship | Some | ||
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | interprète (attribut) | Muscle tone | true | Inferred relationship | Some | 3 | |
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | a pour interprétation (attribut) | augmenté | true | Inferred relationship | Some | 3 | |
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | survenue (attribut) | néonatal | true | Inferred relationship | Some | 1 | |
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | survenue (attribut) | néonatal | true | Inferred relationship | Some | 2 | |
| Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR