myoclonic epilepsies, progressive

Preferred Label : myoclonic epilepsies, progressive;

CISMeF synonym : Myoclonus Epilepsy, Progressive;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0328687;

UMLS CUI

C0751778;

Automatic exact mappings (from CISMeF team)
- Epilepsy, progressive myoclonic [OMIM phenotypic series]
- Generalized myoclonic seizure [HPO term]
- Myoclonic epilepsy of unverricht and lundborg [OMIM Phenotype]
Currated CISMeF NLP mapping
- Myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy, progressive [OMIM Phenotype]
- Myoclonic epilepsy, progressive [HPO term]
- Progressive Myoclonus Epilepsy [NCIt concept]
- Progressive myoclonic epilepsy [ICD-11 Sub-sub category]
- Progressive myoclonic epilepsy [ORDO Disease]
- Progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- Progressive myoclonus epilepsy [PASCAL descriptor]
- progressive myoclonic epilepsy [SNOMED Notion]
- progressive myoclonus epilepsy [DO Concept]
Has phenotype(s) (HPO)
- Myoclonic epilepsy, progressive [HPO term]
MeSH narrower concept(s)
- Action Myoclonus-Renal Failure Syndrome [MeSH concept]
- Biotin-Responsive encephalopathy [MeSH concept]
- Dentatorubral-Pallidoluysian atrophy [MeSH concept]
- May-White syndrome [MeSH concept]
- atypical Inclusion-Body disease [MeSH concept]
- familial progressive myoclonic epilepsy [MeSH concept]
Related record
- myoclonic epilepsies, progressive [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myoclonic epilepsy, progressive [OMIM Phenotype]
- Myoclonic epilepsy, progressive [HPO term]
- Progressive Myoclonus Epilepsy [NCIt concept]
- Progressive myoclonic epilepsy [ORDO Disease]
- Progressive myoclonic epilepsy [MedDRA Preferred Term]
- Progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- progressive myoclonic epilepsy [SNOMED Notion]
- progressive myoclonus epilepsy [DO Concept]

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