lafora disease

Preferred Label : lafora disease;

MeSH definition : A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110); A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110).;

MeSH synonym : lafora body disease; progressive myoclonic epilepsy, lafora; lafora progressive myoclonic epilepsy; progressive myoclonic epilepsy, lafora type; lafora type progressive myoclonic epilepsy; epilepsy, progressive myoclonic, lafora; epilepsy progressive myoclonic 2; lafora body disorder; myoclonic epilepsy of lafora; lafora myoclonic epilepsy; epilepsy, progressive myoclonic 2a; progressive myoclonic epilepsy type 2; progressive myoclonus epilepsy, lafora type; lafora progressive myoclonus epilepsy;

CISMeF synonym : Lafora; lafora's disease; body disorder, lafora; disease, lafora body; disease, lafora; disorder, lafora body;

MeSH hyponym : lafora body disease, late onset; Late Onset Lafora Body Disease; Lafora-Body Disease, Late Onset;

Details

Origin ID

D020192;

UMLS CUI

C0751783;

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]
Currated CISMeF NLP mapping
- Lafora Disease [NCIt concept]
- Lafora disease [DO Concept]
- Lafora disease [Disease (Nov.)]
- Lafora disease [ORDO Disease]
- Lafora disease (disorder) [SNOMED CT concept]
- Lafora's disease [MedDRA LLT]
- Lafora's myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy of lafora [OMIM Phenotype]
- Progressive myoclonic epilepsy type 2 [ICD-11 More detail]
- progressive myoclonic epilepsy [SNOMED Notion]
DO Cross reference
- Lafora disease [DO Concept]
ORDO relation(s)
- Lafora disease [ORDO Disease]
Record concept(s)
- lafora body disease, late onset [MeSH concept]
- lafora disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lafora Disease [NCIt concept]
- Lafora disease [ORDO Disease]
- Lafora disease [DO Concept]
- Lafora disease [Disease (Nov.)]
- Lafora disease (disorder) [SNOMED CT concept]
- Lafora's disease [MedDRA LLT]
- Lafora's myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy of lafora [OMIM Phenotype]

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