1197587003: Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \General finding of soft tissue\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\...
• \Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Finding of neonate\Neonatal disorder\Central nervous system dysfunction in newborn\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Muscle finding\Muscle tone - finding\Hypertonia\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Musculoskeletal finding\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of fetus or newborn\Neonatal disorder\Central nervous system dysfunction in newborn\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Neonatal seizures\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Movement disorder\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
4697265010	Lethal neonatal spasticity, epileptic encephalopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4697266011	Lethal neonatal rigidity, multifocal seizure syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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