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717276003: 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
5401551017 Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by 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
5401552012 Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterised clinically by 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
3308927010 Folinic acid responsive seizure syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5401551017 Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by 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
5401552012 Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterised clinically by 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
3454431001000114 Folinsäure-abhängige Anfälle de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6236981000241114 syndrome convulsif répondant à l'acide folinique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6236991000241111 syndrome de convulsions sensibles à l'acide folinique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237001000241116 syndrome de convulsions sensibles à la leucovorine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6236981000241114 syndrome convulsif répondant à l'acide folinique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6236991000241111 syndrome de convulsions sensibles à l'acide folinique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237001000241116 syndrome de convulsions sensibles à la leucovorine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454431001000114 Folinsäure-abhängige Anfälle de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a Neonatal seizure (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Folinic acid responsive seizure syndrome (disorder) Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Folinic acid responsive seizure syndrome (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Folinic acid responsive seizure syndrome (disorder) Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a Neonatal metabolic disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Folinic acid responsive seizure syndrome (disorder) Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Folinic acid responsive seizure syndrome (disorder) Is a Central nervous system dysfunction in newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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