724576005: Pyridoxal 5-phosphate dependent epilepsy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Pyridoxal 5-phosphate dependent epilepsy (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\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Pyridoxal 5-phosphate dependent epilepsy (disorder)
• \Disease\Metabolic disease\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3481728015	Pyridoxal 5-phosphate dependent epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481729011	Pyridoxal 5-phosphate dependent epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481730018	Pyridoxal phosphate-responsive seizures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7612501000241118	épilepsie dépendante du pyridoxal 5-phosphate	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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