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1208939001: Progressive myoclonic epilepsy type 7 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5013643014 Progressive myoclonus epilepsy type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013644015 Progressive myoclonic epilepsy due to KV3.1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5013645019 Progressive myoclonic epilepsy type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013646018 EPM7 - epilepsy progressive myoclonic 7 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013647010 Progressive myoclonic epilepsy type 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399888014 A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399889018 A rare, genetic, neurological disorder characterised by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013643014 Progressive myoclonus epilepsy type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013644015 Progressive myoclonic epilepsy due to KV3.1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5013645019 Progressive myoclonic epilepsy type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013646018 EPM7 - epilepsy progressive myoclonic 7 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013647010 Progressive myoclonic epilepsy type 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013648017 A rare genetic neurological disorder with characteristics of childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures and occasionally ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399888014 A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399889018 A rare, genetic, neurological disorder characterised by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434711001000113 Myoklonusepilepsie, progressive, Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434711001000113 Myoklonusepilepsie, progressive, Typ 7 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 type 7 Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 7 Is a Progressive myoclonic epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 7 Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 7 Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 7 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive myoclonic epilepsy type 7 Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive myoclonic epilepsy type 7 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) 2
Progressive myoclonic epilepsy type 7 Is a Movement disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 7 Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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