61663001: Juvenile neuronal ceroid lipofuscinosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis

\Disorder of head\Disorder of brain\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis

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

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

Descriptions:

Id Description Lang Type Status Case? Module

102454019 Juvenile neuronal ceroid lipofuscinosis en Synonym Active Entire term case insensitive SNOMED CT core module

102455018 Batten-Mayou disease en Synonym Active Entire term case sensitive SNOMED CT core module

102456017 Spielmeyer-Vogt disease en Synonym Active Entire term case sensitive SNOMED CT core module

102457014 Amaurotic idiocy, juvenile type en Synonym Active Entire term case insensitive SNOMED CT core module

102458016 Cerebral lipidosis, myoclonic variant en Synonym Active Entire term case insensitive SNOMED CT core module

102459012 Batten-Spielmeyer-Vogt disease en Synonym Active Entire term case sensitive SNOMED CT core module

499085016 Cerebral lipidosis myoclonic variant en Synonym Active Entire term case insensitive SNOMED CT core module

499086015 Batten-Mayou syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

499087012 Amaurotic idiocy juvenile type en Synonym Active Entire term case insensitive SNOMED CT core module

499088019 Spielmeyer-Vogt type neuronal ceroid lipofuscinosis en Synonym Active Entire term case sensitive SNOMED CT core module

800750012 Juvenile neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile neuronal ceroid lipofuscinosis	Is a	Cerebral lipidosis	true	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Is a	Myoclonic disorder	true	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Juvenile neuronal ceroid lipofuscinosis	Finding site	Structure of muscle tissue	false	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier	2
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	1
Juvenile neuronal ceroid lipofuscinosis	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	Lipochrome pigmentation	true	Inferred relationship	Existential restriction modifier	1
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Is a	Disorder of pigmentation	true	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Is a	Lesion of brain	false	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Finding site	Skeletal and/or smooth muscle structure	false	Inferred relationship	Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Juvenile neuronal ceroid lipofuscinosis	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	4
Juvenile neuronal ceroid lipofuscinosis	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	2

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	Active	Entire term case insensitive	SNOMED CT core module
102455018	Batten-Mayou disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
102456017	Spielmeyer-Vogt disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
102457014	Amaurotic idiocy, juvenile type	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
102458016	Cerebral lipidosis, myoclonic variant	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
102459012	Batten-Spielmeyer-Vogt disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
499085016	Cerebral lipidosis myoclonic variant	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
499086015	Batten-Mayou syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
499087012	Amaurotic idiocy juvenile type	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
499088019	Spielmeyer-Vogt type neuronal ceroid lipofuscinosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
800750012	Juvenile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module