1373777008: Neuronal ceroid lipofuscinosis type 13 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis type 13
• \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 13
• \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 13
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \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 13
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Metabolic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Chronic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 13

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5483426011	NCL13 - neuronal ceroid lipofuscinosis type 13	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483427019	Neuronal ceroid lipofuscinosis type 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5483428012	CLN13 disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483429016	Neuronal ceroid lipofuscinosis type 13 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5483430014	Kufs disease type B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483431013	A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (11-65 years with the mean of 34 years) epilepsy, cognitive impairment, dementia with behavioral, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus epilepsy are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483432018	A rare neuronal ceroid lipofuscinosis characterised by adulthood-onset (11-65 years with the mean of 34 years) epilepsy, cognitive impairment, dementia with behavioural, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus epilepsy are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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