717276003: Folinic acid responsive seizure syndrome (disorder)

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

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)

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

\Finding of brain\Seizure\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)

\Finding of neonate\Neonatal disorder\...

\Neonatal metabolic disorder (disorder)\Folinic acid responsive seizure syndrome (disorder)

\Central nervous system dysfunction in newborn\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Folinic acid responsive seizure syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Folinic acid responsive seizure syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Folinic acid responsive seizure syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Central nervous system dysfunction in newborn\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Folinic acid responsive seizure syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Folinic acid responsive seizure syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Convulsions in the newborn\Folinic acid responsive seizure syndrome (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Folinic acid responsive seizure syndrome (disorder)
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Folinic acid responsive seizure syndrome (disorder)
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Folinic acid responsive seizure syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308927010 Folinic acid responsive seizure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308928017 Folinic acid responsive seizure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308929013 Folinic acid responsive seizures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308930015 A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3308931016 A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnoea occurring several hours to 5 days after birth and responding to folinic acid. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12201301000172111 syndrome convulsif répondant à l'acide folinique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12201311000172114 syndrome de convulsions sensibles à l'acide folinique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12201321000172116 syndrome de convulsions sensibles à la leucovorine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4504481000172113 folinezuurafhankelijke convulsies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4504491000172111 folinezuurafhankelijke epilepsie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Folinic acid responsive seizure syndrome (disorder)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Folinic acid responsive seizure syndrome (disorder)	Is a	Convulsions in the newborn	true	Inferred relationship	Some
Folinic acid responsive seizure syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Folinic acid responsive seizure syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Folinic acid responsive seizure syndrome (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	1
Folinic acid responsive seizure syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	3
Folinic acid responsive seizure syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Folinic acid responsive seizure syndrome (disorder)	Is a	Neonatal metabolic disorder (disorder)	true	Inferred relationship	Some
Folinic acid responsive seizure syndrome (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Folinic acid responsive seizure syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for neonatology in patient health records

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308927010	Folinic acid responsive seizure syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308928017	Folinic acid responsive seizure syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308929013	Folinic acid responsive seizures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308930015	A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308931016	A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnoea occurring several hours to 5 days after birth and responding to folinic acid.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12201301000172111	syndrome convulsif répondant à l'acide folinique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12201311000172114	syndrome de convulsions sensibles à l'acide folinique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12201321000172116	syndrome de convulsions sensibles à la leucovorine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4504481000172113	folinezuurafhankelijke convulsies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4504491000172111	folinezuurafhankelijke epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)