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763349002: Progressive myoclonic epilepsy with dystonia (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
3638646019 Progressive myoclonus epilepsy with dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638647011 Progressive myoclonic epilepsy with dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638648018 Progressive myoclonic epilepsy with dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404024012 Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404025013 Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterised by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localised and/or generalised paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638646019 Progressive myoclonus epilepsy with dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638647011 Progressive myoclonic epilepsy with dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638648018 Progressive myoclonic epilepsy with dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638649014 A rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638650014 A rare genetic epilepsy syndrome characterised by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localised and/or generalised paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404024012 Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404025013 Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterised by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localised and/or generalised paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388391001000110 Myoklonusepilepsie, progressive, mit Dystonie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
916171000172111 epilepsie myoclonique progressive avec dystonie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
943171000172112 PMED - progressive myoclonic epilepsy with dystonia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
916171000172111 epilepsie myoclonique progressive avec dystonie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
943171000172112 PMED - progressive myoclonic epilepsy with dystonia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388391001000110 Myoklonusepilepsie, progressive, mit Dystonie 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
Progressive myoclonic epilepsy with dystonia (disorder) Is a Dystonia true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy with dystonia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy with dystonia (disorder) Is a Progressive myoclonic epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy with dystonia (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy with dystonia (disorder) Finding site Extrapyramidal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive myoclonic epilepsy with dystonia (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) 2
Progressive myoclonic epilepsy with dystonia (disorder) Is a Myoclonic dystonia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy with dystonia (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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