764453009: Action myoclonus renal failure syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Action myoclonus renal failure syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Action myoclonus renal failure syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Action myoclonus renal failure syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Action myoclonus renal failure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Action myoclonus renal failure syndrome
• \Disease\Congenital disease\Action myoclonus renal failure syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649619019	AMRF - action myoclonus renal failure	en	Synonym	Active	Case sensitive	SNOMED CT core
3649892013	Progressive myoclonic epilepsy type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3649894014	Myoclonus nephropathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3649900014	Action myoclonus renal failure syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3649901013	Action myoclonus renal failure syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5072053016	Syndrome with characteristics of episodes of myoclonus. Renal disease is an inconsistent feature occurring in some but not all cases. Myoclonic jerks typically occur in the torso, upper and lower limbs and face. Some affected individuals develop seizures, peripheral neuropathy or sensorineural hearing loss. Where renal problems occur, an early sign is proteinuria. Age of onset and the clinical course may vary even among members of the same family. The syndrome is caused by mutations in the SCARB2 gene leading to production of an altered LIMP-2 protein that cannot get to the lysosome. As a result, the movement of beta-glucocerebrosidase to lysosomes is impaired. Inherited in an autosomal recessive pattern.	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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