734434007: Pyridoxine-dependent epilepsy (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxine-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\Pyridoxine-dependent epilepsy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy

\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Pyridoxine-dependent epilepsy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyridoxine-dependent epilepsy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Pyridoxine-dependent epilepsy
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Pyridoxine-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\Pyridoxine-dependent epilepsy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-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\Pyridoxine-dependent epilepsy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy
\Disease\Metabolic disease\Disorder of neurometabolic regulation\Pyridoxine-dependent epilepsy
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

3506708010 Pyridoxine-dependent epilepsy en Synonym Active Case insensitive SNOMED CT core

3506709019 Antiquitin deficiency en Synonym Active Case insensitive SNOMED CT core

3506710012 Vitamin B6-dependent seizures en Synonym Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyridoxine-dependent epilepsy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Is a	Disorder of neurometabolic regulation	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Is a	Epilepsy	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Finding site	Structure of cerebrum	true	Inferred relationship	Some	3
Pyridoxine-dependent epilepsy	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy	Occurrence	Congenital	true	Inferred relationship	Some	4
Pyridoxine-dependent epilepsy	Occurrence	Congenital	true	Inferred relationship	Some	5
Pyridoxine-dependent epilepsy	Finding site	Structure of endocrine system	true	Inferred relationship	Some	4
Pyridoxine-dependent epilepsy	Finding site	Structure of central nervous system	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3506707017	Pyridoxine-dependent epilepsy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3506708010	Pyridoxine-dependent epilepsy	en	Synonym	Active	Case insensitive	SNOMED CT core
3506709019	Antiquitin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3506710012	Vitamin B6-dependent seizures	en	Synonym	Active	Initial character case insensitive	SNOMED CT core