734434007: Pyridoxine-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.\Pyridoxine-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.\Pyridoxine-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.\Pyridoxine-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.\Pyridoxine-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.\Pyridoxine-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\Pyridoxine-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.\Pyridoxine-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.\Pyridoxine-dependent epilepsy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent epilepsy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyridoxine-dependent epilepsy (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent epilepsy (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent epilepsy (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxine-dependent epilepsy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-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\Pyridoxine-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.\Pyridoxine-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.\Pyridoxine-dependent epilepsy (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\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 epilepsy (disorder)
\Disease\Metabolic disease\Disorder of neurometabolic regulation\Pyridoxine-dependent epilepsy (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyridoxine-dependent epilepsy (disorder)	Is a	Disorder of neurometabolic regulation	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Some	3
Pyridoxine-dependent epilepsy (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Pyridoxine-dependent epilepsy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Pyridoxine-dependent epilepsy (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	4
Pyridoxine-dependent epilepsy (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	5
Pyridoxine-dependent epilepsy (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	3
Pyridoxine-dependent epilepsy (disorder)	Is a	Disorder of gamma-aminobutyric acid metabolism (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3506707017	Pyridoxine-dependent epilepsy (disorder)	en	Fully specified name	Active	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
941301000172117	epilepsie pyridoxino-dépendante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1004341000172117	déficit en antiquitine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449801001000115	Epilepsie, Pyridoxin-abhängige	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module