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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\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\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Seizure\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\...

\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Finding of neonate\Neonatal disorder\Central nervous system dysfunction in newborn\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Muscle finding\Muscle tone - finding\Increased muscle tone\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Musculoskeletal finding\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 (disorder)\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\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\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
\Disease\Developmental 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

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

13759871000172119 letaal neonataal syndroom met spasticiteit en epileptische encefalopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13759881000172116 letaal neonataal syndroom met rigiditeit en multifocale insulten nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13759891000172118 letaal neonataal syndroom met rigiditeit en multifocale epileptische aanvallen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Spasticity	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Paralytic syndrome	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Epileptic encephalopathy (disorder)	false	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Convulsions in the newborn	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Interprets	Muscle tone	true	Inferred relationship	Some	3
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Has interpretation	Increased	true	Inferred relationship	Some	3
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	1
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	2
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	2
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	5
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	4
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	4
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	Developmental and epileptic encephalopathy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
13759871000172119	letaal neonataal syndroom met spasticiteit en epileptische encefalopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13759881000172116	letaal neonataal syndroom met rigiditeit en multifocale insulten	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13759891000172118	letaal neonataal syndroom met rigiditeit en multifocale epileptische aanvallen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)