61663001: Juvenile neuronal ceroid lipofuscinosis (disorder)

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

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

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

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

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
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Cerebral lipidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Myoclonic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Juvenile neuronal ceroid lipofuscinosis (disorder)	Finding site	Muscle tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Juvenile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Juvenile neuronal ceroid lipofuscinosis (disorder)	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Juvenile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Lipochrome pigmentation (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Juvenile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Disorder of pigmentation (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	Lesion of brain (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Juvenile neuronal ceroid lipofuscinosis (disorder)	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Juvenile neuronal ceroid lipofuscinosis (disorder)	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Juvenile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
102454019	Juvenile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102455018	Batten-Mayou disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
102456017	Spielmeyer-Vogt disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
102457014	Amaurotic idiocy, juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102458016	Cerebral lipidosis, myoclonic variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102459012	Batten-Spielmeyer-Vogt disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499085016	Cerebral lipidosis myoclonic variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499086015	Batten-Mayou syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499087012	Amaurotic idiocy juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499088019	Spielmeyer-Vogt type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
800750012	Juvenile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102454019	Juvenile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
102454019	Juvenile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102455018	Batten-Mayou disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
102455018	Batten-Mayou disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
102456017	Spielmeyer-Vogt disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
102457014	Amaurotic idiocy, juvenile type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
102457014	Amaurotic idiocy, juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102458016	Cerebral lipidosis, myoclonic variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
102458016	Cerebral lipidosis, myoclonic variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102459012	Batten-Spielmeyer-Vogt disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
102459012	Batten-Spielmeyer-Vogt disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499085016	Cerebral lipidosis myoclonic variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499085016	Cerebral lipidosis myoclonic variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499086015	Batten-Mayou syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499086015	Batten-Mayou syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499087012	Amaurotic idiocy juvenile type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499087012	Amaurotic idiocy juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499088019	Spielmeyer-Vogt type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
800750012	Juvenile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
800750012	Juvenile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446581001000119	Ceroid-Lipofuszinose, neuronale, juvenile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
123921000077115	céroïde-lipofuscinose neuronale juvénile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1019671000172117	CLN (céroïde-lipofuscinose neuronale) juvénile	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
123921000077115	céroïde-lipofuscinose neuronale juvénile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1019671000172117	CLN (céroïde-lipofuscinose neuronale) juvénile	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446581001000119	Ceroid-Lipofuszinose, neuronale, juvenile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module