734434007: Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxine-dependent developmental and epileptic encephalopathy (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\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of beta and omega amino acid metabolism\Disorder of gamma-aminobutyric acid metabolism (disorder)\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Metabolic disease\Disorder of neurometabolic regulation\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3506707017	Pyridoxine-dependent epilepsy (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
3506708010	Pyridoxine-dependent epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3506709019	Antiquitin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3506710012	Vitamin B6-dependent seizures	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407335019	Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5407336018	Pyridoxine-dependent DEE (developmental and epileptic encephalopathy)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407337010	Pyridoxine-dependent developmental and epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5407338017	PD-DEE - pyridoxine-dependent developmental and epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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US English

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