717225001: Benign adult familial myoclonic epilepsy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Benign adult familial myoclonic epilepsy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Benign adult familial myoclonic epilepsy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Benign adult familial myoclonic epilepsy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Benign adult familial myoclonic epilepsy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Benign adult familial myoclonic epilepsy

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308729017	Benign adult familial myoclonic epilepsy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308730010	Benign adult familial myoclonic epilepsy	en	Synonym	Active	Case insensitive	SNOMED CT core
3308731014	BAFME - Benign adult familial myoclonic epilepsy	en	Synonym	Active	Case sensitive	SNOMED CT core
3308732019	Autosomal dominant cortical myoclonus and epilepsy	en	Synonym	Active	Case insensitive	SNOMED CT core
3308733012	Benign adult familial myoclonus epilepsy	en	Synonym	Active	Case insensitive	SNOMED CT core
3308734018	An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high	en	Definition	Active	Case sensitive	SNOMED CT core
3308735017	An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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