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764453009: Action myoclonus renal failure syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3649619019 AMRF - action myoclonus renal failure en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3649892013 Progressive myoclonic epilepsy type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649894014 Myoclonus nephropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649900014 Action myoclonus renal failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649901013 Action myoclonus renal failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404294010 A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404295011 A rare epilepsy syndrome characterised by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3649619019 AMRF - action myoclonus renal failure en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3649892013 Progressive myoclonic epilepsy type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649894014 Myoclonus nephropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649900014 Action myoclonus renal failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649901013 Action myoclonus renal failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649899016 Syndrome with characteristics of episodes of myoclonus. Renal disease is an inconsistent feature occuring 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5404294010 A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404295011 A rare epilepsy syndrome characterised by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3453141001000111 Aktionsmyoklonus-Nierenversagen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
878331000172110 AMRF - action myoclonus-renal failure fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
922201000172118 syndrome de myoclonus d'action-insuffisance rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
878331000172110 AMRF - action myoclonus-renal failure fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
922201000172118 syndrome de myoclonus d'action-insuffisance rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453141001000111 Aktionsmyoklonus-Nierenversagen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Action myoclonus renal failure syndrome Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Action myoclonus renal failure syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Action myoclonus renal failure syndrome Is a Progressive myoclonic epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Action myoclonus renal failure syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Action myoclonus renal failure syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Action myoclonus renal failure syndrome Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 1
Action myoclonus renal failure syndrome Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Action myoclonus renal failure syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Disorder of glomerulus due to action myoclonus renal failure syndrome (disorder) Due to True Action myoclonus renal failure syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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