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267581004: Progressive myoclonic epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
399395015 Progressive myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660215010 Progressive myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
399395015 Progressive myoclonic epilepsy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
399395015 Progressive myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660215010 Progressive myoclonic epilepsy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
660215010 Progressive myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3385321001000115 Myoklonusepilepsie, progressive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
102931000172111 épilepsie myoclonique progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
102931000172111 épilepsie myoclonique progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385321001000115 Myoklonusepilepsie, progressive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive myoclonic epilepsy (disorder) Is a épilepsie généralisée cryptogénique false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy (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
Progressive myoclonic epilepsy (disorder) Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy (disorder) Is a Myoclonic seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy (disorder) Is a épilepsie tonicoclonique false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy (disorder) Is a Generalized epilepsy false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy (disorder) Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive myoclonic epilepsy (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive myoclonic epilepsy (disorder) Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Unverricht-Lundborg syndrome Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lafora disease Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonus epilepsy with ataxia (disorder) Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with progressive myoclonic epilepsy Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset Lafora body disease (disorder) Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy with dystonia (disorder) Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Action myoclonus renal failure syndrome Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 3 (disorder) Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 7 Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 9 Is a True Progressive myoclonic epilepsy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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