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778001003: Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736359010 Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736360017 KCNQ2-related neonatal epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736361018 KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736362013 KCNQ2-related epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736363015 Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736364014 A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736365010 A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736359010 Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736360017 KCNQ2-related neonatal epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736361018 KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736362013 KCNQ2-related epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736363015 Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736364014 A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736365010 A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434681001000112 Enzephalopathie, epileptische, KCNQ2-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6446271000241119 encéphalopathie épileptique associée à KCNQ2 (potassium voltage-gated channel subfamily Q member 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6446271000241119 encéphalopathie épileptique associée à KCNQ2 (potassium voltage-gated channel subfamily Q member 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434681001000112 Enzephalopathie, epileptische, KCNQ2-assoziierte 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
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic 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. false Inferred relationship Existential restriction modifier (core metadata concept) 1
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a A type of epilepsy characterized by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying etiology is thought to be the only cause of developmental impairment. false Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a Neonatal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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