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

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\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)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of glutamine metabolism\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.

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

Descriptions:

Id Description Lang Type Status Case? Module

5048362012 Neonatal epileptic encephalopathy due to glutaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048363019 Neonatal epileptic encephalopathy due to deficiency of glutaminase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

5399996017 A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399997014 A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048362012 Neonatal epileptic encephalopathy due to glutaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048363019 Neonatal epileptic encephalopathy due to deficiency of glutaminase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

5048370019 A rare genetic neurometabolic disease with characteristics of early neonatal refractory seizures, hypotonia and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048371015 A rare genetic neurometabolic disease with characteristics of early neonatal refractory seizures, hypotonia and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399996017 A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399997014 A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3442261001000113 Neonatale epileptische Enzephalopathie durch Glutaminase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3442261001000113 Neonatale epileptische Enzephalopathie durch Glutaminase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	Disorder of glutamine metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	A type of epilepsy characterized by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying etiology is thought to be the only cause of developmental impairment.	false	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	Neonatal metabolic disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	Central nervous system complication	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Due to	Deficiency of glutaminase (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	Developmental and epileptic encephalopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5048362012	Neonatal epileptic encephalopathy due to glutaminase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048363019	Neonatal epileptic encephalopathy due to deficiency of glutaminase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048364013	Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399996017	A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399997014	A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048362012	Neonatal epileptic encephalopathy due to glutaminase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048363019	Neonatal epileptic encephalopathy due to deficiency of glutaminase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048364013	Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048370019	A rare genetic neurometabolic disease with characteristics of early neonatal refractory seizures, hypotonia and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048371015	A rare genetic neurometabolic disease with characteristics of early neonatal refractory seizures, hypotonia and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399996017	A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399997014	A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442261001000113	Neonatale epileptische Enzephalopathie durch Glutaminase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442261001000113	Neonatale epileptische Enzephalopathie durch Glutaminase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module