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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


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 (disorder) false Inferred relationship Some
Perioral myoclonia with absences (disorder) Finding site Cerebrum false Inferred relationship Some 1
Perioral myoclonia with absences (disorder) Is a Genetic generalised epilepsy true Inferred relationship Some
Perioral myoclonia with absences (disorder) Finding site Brain structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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