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765170001: Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657302011 SCN8A encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657303018 SCN8A (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657304012 Early infantile epileptic encephalopathy 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657305013 Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657306014 SCN8A-related epilepsy with encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657307017 Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657312016 Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be refractory and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657302011 SCN8A encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657303018 SCN8A (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657304012 Early infantile epileptic encephalopathy 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657305013 Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657306014 SCN8A-related epilepsy with encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657307017 Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657312016 Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be refractory and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Is a syndrome cérébral non spécifique false Inferred relationship Existential restriction modifier (core metadata concept)
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (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) 1
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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