42012007: Neuronal ceroid lipofuscinosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis
\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
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\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
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis
\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
\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
\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
\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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis
\Disease\Metabolic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis
\Disease\Chronic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neuronal ceroid lipofuscinosis	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	Lipofuscinosis	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	Degenerative disorder	false	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis	Associated morphology	Dystrophy	false	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	Degenerative brain disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile neuronal ceroid lipofuscinosis (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Northern epilepsy	Is a	False	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	False	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Myoclonic disorder due to neuronal ceroid lipofuscinosis (disorder)	Due to	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis type 2	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 1 (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 8	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 5	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 6 (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 7	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 11	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Myoclonic disorder due to neuronal ceroid lipofuscinosis (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 4	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 13	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Late-infantile neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 10 (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 3	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
70121010	Neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
70122015	Cerebromacular degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
70123013	Cerebromacular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
70124019	Pigmentary retinal lipoid neuronal heredodegeneration	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
778865010	Neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5483433011	NCL - neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core