783064000: Progressive myoclonic epilepsy type 3 (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3

\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 3
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3

\Disorder of head\Encephalopathy\...

\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3

\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3

\Chronic brain syndrome\Progressive myoclonic epilepsy type 3

\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3

\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive myoclonic epilepsy type 3
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3
\Disease\Degenerative disorder\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
\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 3
\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 3
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 3
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Progressive myoclonic epilepsy type 3
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive myoclonic epilepsy type 3
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis\Progressive myoclonic epilepsy type 3
\Disease\Chronic disease\Chronic metabolic disorder\Progressive myoclonic epilepsy type 3
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Progressive myoclonic epilepsy type 3

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757310011 Progressive myoclonic epilepsy due to KCTD7 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3757311010 Progressive myoclonus epilepsy type 3 en Synonym Active Case insensitive SNOMED CT core

3757312015 PME type 3 - progressive myoclonic epilepsy type 3 en Synonym Active Case sensitive SNOMED CT core

3757313013 Progressive myoclonic epilepsy type 3 en Synonym Active Case insensitive SNOMED CT core

3757314019 Progressive myoclonic epilepsy type 3 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3757315018 A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. en Definition Active Case sensitive SNOMED CT core

3757316017 A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive myoclonic epilepsy type 3	Is a	Infantile neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Is a	Cerebral degeneration	true	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Progressive myoclonic epilepsy type 3	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Progressive myoclonic epilepsy type 3	Is a	Progressive myoclonic epilepsy	true	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Occurrence	Congenital	true	Inferred relationship	Some	1
Progressive myoclonic epilepsy type 3	Clinical course	Progressive	true	Inferred relationship	Some	2
Progressive myoclonic epilepsy type 3	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Progressive myoclonic epilepsy type 3	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Interprets	Movement	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757310011	Progressive myoclonic epilepsy due to KCTD7 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757311010	Progressive myoclonus epilepsy type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3757312015	PME type 3 - progressive myoclonic epilepsy type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
3757313013	Progressive myoclonic epilepsy type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3757314019	Progressive myoclonic epilepsy type 3 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757315018	A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.	en	Definition	Active	Case sensitive	SNOMED CT core
3757316017	A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.	en	Definition	Active	Case sensitive	SNOMED CT core