724576005: Pyridoxal 5-phosphate dependent epilepsy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate 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\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Pyridoxal 5-phosphate dependent epilepsy (disorder)
\Disease\Metabolic disease\Disorder of neurometabolic regulation\Pyridoxal 5-phosphate dependent epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

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
3481728015	Pyridoxal 5-phosphate dependent epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481729011	Pyridoxal 5-phosphate dependent epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481730018	Pyridoxal phosphate-responsive seizures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481728015	Pyridoxal 5-phosphate dependent epilepsy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481728015	Pyridoxal 5-phosphate dependent epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481729011	Pyridoxal 5-phosphate dependent epilepsy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481729011	Pyridoxal 5-phosphate dependent epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481730018	Pyridoxal phosphate-responsive seizures	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481730018	Pyridoxal phosphate-responsive seizures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core