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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \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 glutaminase deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \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 glutaminase deficiency
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \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\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \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 glutaminase deficiency
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Neonatal epileptic encephalopathy due to glutaminase deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Neonatal epileptic encephalopathy due to glutaminase deficiency

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
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
13788871000172119	neonatale epileptische encefalopathie door glutaminasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13788881000172116	epileptische encefalopathie bij pasgeborene door glutaminasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start