1208939001: Progressive myoclonic epilepsy type 7 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Disorder of head\Encephalopathy\...
• \Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 7
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 7
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Disease\Movement disorder\Progressive myoclonic epilepsy type 7
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Progressive myoclonic epilepsy type 7

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5013643014	Progressive myoclonus epilepsy type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
5013644015	Progressive myoclonic epilepsy due to KV3.1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5013645019	Progressive myoclonic epilepsy type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
5013646018	EPM7 - epilepsy progressive myoclonic 7	en	Synonym	Active	Case sensitive	SNOMED CT core
5013647010	Progressive myoclonic epilepsy type 7 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5013648017	A rare genetic neurological disorder with characteristics of childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures and occasionally ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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