724576005: Pyridoxal 5-phosphate dependent epilepsy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Central nervous system finding\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Metabolic disease\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy
• \Disease\Congenital disease\Pyridoxal 5-phosphate dependent epilepsy

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3481729011	Pyridoxal 5-phosphate dependent epilepsy	en	Synonym	Active	Case insensitive	SNOMED CT core
3481730018	Pyridoxal phosphate-responsive seizures	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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