| letaal neonataal syndroom met spasticiteit en epileptische encefalopathie (aandoening) | | letaal neonataal syndroom met spasticiteit en epileptische encefalopathie | | letaal neonataal syndroom met rigiditeit en multifocale epileptische aanvallen
letaal neonataal syndroom met rigiditeit en multifocale insulten
| | Lethal neonatal spasticity, epileptic encephalopathy syndrome | | Lethal neonatal rigidity, multifocal seizure syndrome
| | 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. |
| | Id | 1197587003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 435845 |
| SNOMED CT to ICD-10 extended map | | Target | G40.4 | | Rule | TRUE | | Advice | ALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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