703526007: Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Genetic disease\Genetic intellectual disability\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy syndrome with progressive neurological deterioration (disorder)\Progressive myoclonic epilepsy\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Metabolic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Chronic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy
• \Disease\Developmental disorder\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis type 8\Northern epilepsy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3008925016	Progressive epilepsy with mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008996014	Northern epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009093012	Neuronal ceroid lipofuscinosis 8 (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009778015	Neuronal ceroid lipofuscinosis 8	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643140012	Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643141011	Progressive epilepsy-intellectual disability syndrome Finnish type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5483367019	CLN8 disease, northern epilepsy variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483368012	Neuronal ceroid lipofuscinosis, northern epilepsy variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start