Preferred Name |
Epilepsy with myoclonic absence |
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Synonyms |
Epilepsy with myoclonic absence (disorder) EMA - epilepsy with myoclonic absence Myoclonic absence epilepsy |
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Definitions |
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. Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised 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 generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background. |
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ID |
http://purl.bioontology.org/ontology/SNOMEDCT/230422001 |
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Active |
1 |
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altLabel |
Epilepsy with myoclonic absence (disorder) EMA - epilepsy with myoclonic absence Myoclonic absence epilepsy |
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CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
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CTV3ID |
X006U |
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cui |
C0393703 |
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definition |
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. Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised 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 generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background. |
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DEFINITION STATUS ID |
900000000000074008 |
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Effective time |
20020131 |
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Has finding site | ||
notation |
230422001 |
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Occurs in | ||
prefLabel |
Epilepsy with myoclonic absence |
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Subset member |
6011000124106~MAPRULE~IFA 766815007 | Perioral myoclonia with absences | 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~G40.A09 6011000124106~MAPRULE~IFA 431131000124105 | Myoclonic absence epilepsy, refractory (disorder) | 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 900000000000497000~MAPTARGET~X006U 447562003~MAPGROUP~1 6011000124106~MAPADVICE~IF MYOCLONIC ABSENCE EPILEPSY, REFRACTORY CHOOSE G40.419 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~G40.409 6011000124106~MAPRULE~IFA 431141000124100 | Myoclonic absence epilepsy, non-refractory | 6011000124106~MAPADVICE~IF PERIORAL MYOCLONIA WITH ABSENCES CHOOSE G40.409 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 447562003~MAPTARGET~G40.4 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 431141000124100 | Myoclonic absence epilepsy, non-refractory (disorder) | 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS G40.4 6011000124106~MAPADVICE~ALWAYS G40.A09 6011000124106~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 431131000124105 | Myoclonic absence epilepsy, refractory | 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF MYOCLONIC ABSENCE EPILEPSY, NON-REFRACTORY CHOOSE G40.409 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~G40.419 |
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tui |
T047 |
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Type ID |
900000000000003001 900000000000013009 |
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subClassOf |