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\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized 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\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome

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

\Finding of brain\Seizure\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome

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

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

\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome

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

\Muscle finding\Finding of muscle tone\Increased muscle tone\Spasticity\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome

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

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalized 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\Convulsions in the newborn\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\Disorder of nervous system\Hereditary disorder of nervous system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Convulsions in the newborn\Lethal neonatal spasticity, epileptic encephalopathy syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized 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, Not sufficiently defined by necessary conditions definition status. Date: 28-Feb 2022. Module: SNOMED CT core module

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 SNOMED CT core module

4697265010 Lethal neonatal spasticity, epileptic encephalopathy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4697266011 Lethal neonatal rigidity, multifocal seizure syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Spasticity	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Paralytic syndrome	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Epileptic encephalopathy	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Is a	Convulsions in the newborn	true	Inferred relationship	Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Interprets	Muscle tone	true	Inferred relationship	Existential restriction modifier	3
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Has interpretation	Increased	true	Inferred relationship	Existential restriction modifier	3
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier	1
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier	2
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	2
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	5
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier	4
Lethal neonatal spasticity, epileptic encephalopathy syndrome	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4697264014	Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4697265010	Lethal neonatal spasticity, epileptic encephalopathy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4697266011	Lethal neonatal rigidity, multifocal seizure syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module