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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Finding of movement\Movement disorder\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \General finding of soft tissue\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Finding of neonate\Neonatal disorder\Central nervous system dysfunction in newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Musculoskeletal finding (finding)\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Central nervous system dysfunction in newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

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
5399760012	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
5399761011	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
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
5399760012	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
5399761011	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
3432151001000119	Letale neonatale Spastik-epileptische Enzephalopathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432151001000119	Letale neonatale Spastik-epileptische Enzephalopathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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