61663001: 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
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebral lipidosis\Juvenile neuronal ceroid lipofuscinosis
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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\Storage disease\Lysosomal storage disease (disorder)\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\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis
\Disease\Disorder of pigmentation (disorder)\Juvenile neuronal ceroid lipofuscinosis
\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
\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
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Cerebral lipidosis\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\Disorder of nervous system (disorder)\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 (disorder)\Myoclonic disorder\Juvenile neuronal ceroid lipofuscinosis
\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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\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\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Juvenile neuronal ceroid lipofuscinosis
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\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\Movement disorder\Myoclonic disorder\Juvenile 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
Juvenile neuronal ceroid lipofuscinosis	Is a	Cerebral lipidosis	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	Myoclonic disorder	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Juvenile neuronal ceroid lipofuscinosis	Finding site	Muscle tissue	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Juvenile neuronal ceroid lipofuscinosis	Finding site	Brain structure	false	Inferred relationship	Some	1
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	Lipochrome pigmentation	true	Inferred relationship	Some	1
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	Dystrophy	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	Disorder of pigmentation (disorder)	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	Lesion of brain	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Juvenile neuronal ceroid lipofuscinosis	Finding site	Brain structure	true	Inferred relationship	Some	4
Juvenile neuronal ceroid lipofuscinosis	Interprets	Movement	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	True	Juvenile neuronal ceroid lipofuscinosis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

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
353991000146111	ziekte van Batten-Spielmeyer-Vogt	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11278891000146117	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)
11278901000146116	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)
7585701000146114	Dit is een vorm van neuronale ceroïdlipofuscinosen die begint tussen het vierde en zevende levensjaar. Het wordt gekenmerkt door blindheid, epilepsie en dementie en leidt tot een vroegtijdige dood.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)