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766815007: Perioral myoclonia with absences (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
3662709014 POMA - perioral myoclonia with absences en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662711017 Perioral myoclonia with absences (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662713019 Perioral myoclonia with absences en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662710016 A rare epilepsy syndrome characterised by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalised tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662712012 A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662709014 POMA - perioral myoclonia with absences en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662711017 Perioral myoclonia with absences (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662713019 Perioral myoclonia with absences en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662710016 A rare epilepsy syndrome characterised by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalised tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662712012 A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3392291001000117 Periorale Myoklonie mit Absencen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891701000172119 POMA - perioral myoclonia with absences fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007391000172119 myoclonie péri-orale avec absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891701000172119 POMA - perioral myoclonia with absences fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007391000172119 myoclonie péri-orale avec absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392291001000117 Periorale Myoklonie mit Absencen 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
Perioral myoclonia with absences (disorder) Is a Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalized seizure types which may be seen in this syndrome include generalized tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalized spike-and-wave pattern time-locked with myoclonic jerks, with a normal background. false Inferred relationship Existential restriction modifier (core metadata concept)
Perioral myoclonia with absences (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
Perioral myoclonia with absences (disorder) Is a Genetic generalized epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Perioral myoclonia with absences (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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