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\Disorder of brain\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\Disorder of brain\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\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy

\Disorder of head\Disorder of brain\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\Disorder of nervous system\Hereditary disorder of nervous system\Pyridoxal 5-phosphate 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\Pyridoxal 5-phosphate dependent epilepsy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy
\Disease\Disorder of head\Disorder of brain\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3481728015 Pyridoxal 5-phosphate dependent epilepsy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3481729011 Pyridoxal 5-phosphate dependent epilepsy en Synonym Active Entire term case insensitive SNOMED CT core module

3481730018 Pyridoxal phosphate-responsive seizures en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3481728015	Pyridoxal 5-phosphate dependent epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3481729011	Pyridoxal 5-phosphate dependent epilepsy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3481730018	Pyridoxal phosphate-responsive seizures	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module