loading...| Preferred Name | early myoclonic encephalopathy | |
| Synonyms |
myoclonus epilepsy myoclonic seizure myoclonic epilepsy epileptic seizures - myoclonic myoclonia epileptica early myoclonic encephalopathy myoclonic seizure disorder early myoclonic encephalopathy with suppression-bursts epileptic seizures, myoclonic eme |
|
| 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 |
icd11.foundation:1877241469 SCTID:44423001 NCIT:C116593 MEDGEN:124373 NANDO:1200594 Orphanet:1935 UMLS:C0270855 DOID:308 GARD:16581 |
|
| 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. |
|
| has_exact_synonym |
myoclonic seizure myoclonic epilepsy epileptic seizures - myoclonic myoclonia epileptica early myoclonic encephalopathy myoclonic seizure disorder early myoclonic encephalopathy with suppression-bursts epileptic seizures, myoclonic eme |
|
| has_related_synonym |
myoclonus epilepsy |
|
| id |
MONDO:0016022 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_clinical_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
early myoclonic encephalopathy |
|
| notation |
MONDO:0016022 |
|
| preferred label |
early myoclonic encephalopathy |
|
| prefLabel |
early myoclonic encephalopathy |
|
| see also |
https://www.epilepsydiagnosis.org/syndrome/eme-overview.html |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_308 http://identifiers.org/snomedct/44423001 http://purl.obolibrary.org/obo/Orphanet_1935 http://purl.obolibrary.org/obo/NCIT_C116593 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1877241469 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100022 http://purl.obolibrary.org/obo/MONDO_0000412 |