loading...| Preferred Name | early myoclonic encephalopathy | |
| Synonyms |
myoclonus epilepsy early myoclonic encephalopathy epileptic seizures, myoclonic myoclonic seizure disorder myoclonic seizure early myoclonic encephalopathy with suppression-bursts eme myoclonia epileptica myoclonic epilepsy epileptic seizures - myoclonic |
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| Definitions |
Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016022 |
|
| database_cross_reference |
DOID:308 NCIT:C116593 SCTID:44423001 UMLS:C0270855 GARD:16581 Orphanet:1935 |
|
| definition |
Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_308 http://identifiers.org/snomedct/44423001 http://purl.obolibrary.org/obo/Orphanet_1935 |
|
| has_exact_synonym |
early myoclonic encephalopathy epileptic seizures, myoclonic myoclonic seizure disorder myoclonic seizure early myoclonic encephalopathy with suppression-bursts eme myoclonia epileptica myoclonic epilepsy epileptic seizures - myoclonic |
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| has_related_synonym |
myoclonus epilepsy |
|
| id |
MONDO:0016022 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_clinical_syndrome http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
early myoclonic encephalopathy |
|
| notation |
MONDO:0016022 |
|
| prefLabel |
early myoclonic encephalopathy |
|
| seeAlso |
https://www.epilepsydiagnosis.org/syndrome/eme-overview.html |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0100022 http://purl.obolibrary.org/obo/MONDO_0000412 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100022 http://purl.obolibrary.org/obo/MONDO_0000412 |