myoclonic epilepsies, progressive

Preferred Label : myoclonic epilepsies, progressive;

MeSH definition : A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.; A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.;

MeSH synonym : epilepsies, progressive myoclonus; epilepsy, progressive myoclonus; progressive myoclonus epilepsies; epilepsies, progressive myoclonic; epilepsy, progressive myoclonic; myoclonic epilepsy, progressive; progressive myoclonic epilepsies; progressive myoclonic epilepsy; myoclonus epilepsies, progressive; progressive myoclonus epilepsy;

CISMeF synonym : syndromes, may-white; syndrome, may-white; may-white syndromes; myoclonus epilepsy, progressive; disease, atypical Inclusion-Body; diseases, atypical Inclusion-Body; disease, Naito-Oyanagi; diseases, Naito-Oyanagi; oyanagi disease, naito; river syndrome, haw; syndrome, haw river; syndromes, haw river; syndrome, Myoclonus-Nephropathy;

MeSH hyponym : Biotin-Responsive encephalopathy; familial progressive myoclonic epilepsy; Action Myoclonus-Renal Failure Syndrome; atypical Inclusion-Body disease; May-White syndrome; Dentatorubral-Pallidoluysian atrophy; Atypical Inclusion Body Disease; Atypical Inclusion-Body Diseases; Inclusion-Body Disease, Atypical; Inclusion-Body Diseases, Atypical; May White Syndrome; Atrophies, Dentatorubral-Pallidoluysian; Atrophy, Dentatorubral-Pallidoluysian; Dentatorubral Pallidoluysian Atrophy; Dentatorubral-Pallidoluysian Atrophies; Naito-Oyanagi Disease; Naito-Oyanagi Diseases; Haw River Syndrome; Haw River Syndromes; River Syndromes, Haw; Naito Oyanagi Disease; Ataxia, Chorea, Seizures, And Dementia; Action Myoclonus Renal Failure Syndrome; Myoclonus-Nephropathy Syndrome; Myoclonus Nephropathy Syndrome; Myoclonus-Nephropathy Syndromes; Syndromes, Myoclonus-Nephropathy; Biotin Responsive Encephalopathy; Biotin-Responsive Encephalopathies; Encephalopathies, Biotin-Responsive; Encephalopathy, Biotin-Responsive;

Wikipedia link : https://en.wikipedia.org/wiki/Progressive myoclonus epilepsies;

Details

Origin ID

D020191;

UMLS CUI

C0751778;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
- Dentatorubral-pallidoluysian atrophy [MedDRA Preferred Term]
- Dentatorubral-pallidoluysian atrophy [OMIM Phenotype]
- Dentatorubropallidoluysian Atrophy (DRPLA) Pathway [NCIt concept]
- Dentatorubropallidoluysian atrophy [PASCAL descriptor]
- Dentatorubropallidoluysian degeneration (disorder) [SNOMED CT concept]
- Epilepsy, progressive myoclonic [OMIM phenotypic series]
- General medical examination [ICD-10 Sub-category (who)]
- Generalized myoclonic seizure [HPO term]
- Myeloproliferative disorder, chronic, with eosinophilia [OMIM Phenotype]
- Myoclonic epilepsy of unverricht and lundborg [OMIM Phenotype]
- dentatorubral pallidoluysian atrophy [Disease (Nov.)]
- dentatorubral-pallidoluysian atrophy [DO Concept]
- maculopapular rash [SNOMED Notion]
- progressive myoclonus epilepsy 4 [DO Concept]
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]
DO Cross reference
- dentatorubral-pallidoluysian atrophy [DO Concept]
- progressive myoclonus epilepsy [DO Concept]
- progressive myoclonus epilepsy 4 [DO Concept]
HPO term
- Generalized myoclonic seizure [HPO term]
Has phenotype(s) (HPO)
- Myoclonic epilepsy, progressive [HPO term]
Manual BTNT mappings - CISMeF
- Familial encephalopathy with neuroserpin inclusion bodies [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Adolescent-onset epilepsy syndrome [ORDO Disease]
- Childhood-onset epilepsy syndrome [ORDO Disease]
ORDO relation(s)
- Progressive myoclonic epilepsy [ORDO Disease]
Record 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]
- myoclonic epilepsies, progressive [MeSH concept]
Related MeSH Supplementary Concept(s)
- Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis with polyglucosan bodies [MeSH Supplementary Concept]
- epilepsy, progressive myoclonic 2B [MeSH Supplementary Concept]
- epilepsy, progressive myoclonic 3 [MeSH Supplementary Concept]
- myoclonic epilepsy with choreoathetosis [MeSH Supplementary Concept]
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]
Validated automatic mappings to BTNT
- Action myoclonus renal failure syndrome (disorder) [SNOMED CT concept]
- Action myoclonus-renal failure syndrome [ORDO Disease]
- Dentatorubral-Pallidoluysian Atrophy [NCIt concept]
- Epilepsy, progressive myoclonic, 4, with or without renal failure [OMIM Phenotype]
- Unverricht Lundborg syndrome [Disease (Nov.)]

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