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Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
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.
Id1197587003
StatusPrimitive
Has interpretationIncreased
InterpretsMuscle tone
Finding siteSkeletal muscle structure
OccurrenceNeonatal
Finding siteBrain structure
OccurrenceNeonatal
Pathological processPathological developmental process
Has interpretationAbsent
InterpretsMovement observable
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified