1222662000: Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase

\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder\Neonatal epileptic encephalopathy due to deficiency of glutaminase

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal metabolic disorder\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Central nervous system complication\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\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\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Metabolic disease\Neonatal metabolic disorder\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glutamine metabolism\Neonatal epileptic encephalopathy due to deficiency of glutaminase
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to deficiency of glutaminase

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5048362012 Neonatal epileptic encephalopathy due to glutaminase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

5048363019 Neonatal epileptic encephalopathy due to deficiency of glutaminase en Synonym Active Entire term case insensitive SNOMED CT core module

5048364013 Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Is a	Disorder of glutamine metabolism	true	Inferred relationship	Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Is a	Epileptic encephalopathy	true	Inferred relationship	Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Is a	Neonatal metabolic disorder	true	Inferred relationship	Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Is a	Central nervous system complication	true	Inferred relationship	Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Due to	Deficiency of glutaminase	true	Inferred relationship	Existential restriction modifier	2
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier	1
Neonatal epileptic encephalopathy due to deficiency of glutaminase	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	1

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
5048362012	Neonatal epileptic encephalopathy due to glutaminase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5048363019	Neonatal epileptic encephalopathy due to deficiency of glutaminase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5048364013	Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module