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\Disorder of brain\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\Disorder of brain\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\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy

\Disorder of head\Disorder of brain\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\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxine-dependent epilepsy
\Disease\Disorder of head\Disorder of brain\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3506707017 Pyridoxine-dependent epilepsy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3506708010 Pyridoxine-dependent epilepsy en Synonym Active Entire term case insensitive SNOMED CT core module
3506709019 Antiquitin deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3506710012 Vitamin B6-dependent seizures en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3506708010	Pyridoxine-dependent epilepsy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3506709019	Antiquitin deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3506710012	Vitamin B6-dependent seizures	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module