159371000146103: klassieke juveniele neuronale ceroïdlipofuscinose (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)

\Finding of movement (finding)\Movement disorder\Myoclonic disorder\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of pigmentation (disorder)\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Degenerative disorder\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)
\Disease\Movement disorder\Myoclonic disorder\Juvenile neuronal ceroid lipofuscinosis\Classic juvenile neuronal ceroid lipofuscinosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Lipochrome pigmentation	true	Inferred relationship	Some	1
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Juvenile neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	4
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
13224741000146119	Classic juvenile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13224761000146118	Classic juvenile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13224771000146112	Classic juvenile NCL	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13236601000146115	CLN3 disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13237381000146116	klassieke juveniele neuronale ceroïdlipofuscinose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13237391000146119	klassieke juveniele neuronale ceroïdlipofuscinose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13237401000146116	klassieke juveniele NCL	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13237411000146119	CLN3-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)