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1148885001: Disorder of glomerulus due to action myoclonus renal failure syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4552719011 Glomerular disease due to action myoclonus renal failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4553937011 Disorder of glomerulus due to action myoclonus renal failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4553938018 Disorder of glomerulus due to action myoclonus renal failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glomerular disease due to action myoclonus renal failure syndrome Due to 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. true Inferred relationship Some 2
Glomerular disease due to action myoclonus renal failure syndrome Finding site Glomerulus structure true Inferred relationship Some 1
Glomerular disease due to action myoclonus renal failure syndrome Is a Secondary glomerular disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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