62009002: ziekte van Kufs (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Degenerative disorder\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Adult 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
Adult neuronal ceroid lipofuscinosis	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Occurrence	Adulthood	true	Inferred relationship	Some	1
Adult neuronal ceroid lipofuscinosis	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	3
Adult neuronal ceroid lipofuscinosis	Associated morphology	Dystrophy	false	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Adult neuronal ceroid lipofuscinosis	Occurrence	Congenital	false	Inferred relationship	Some	4
Adult neuronal ceroid lipofuscinosis	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	3
Adult neuronal ceroid lipofuscinosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Adult neuronal ceroid lipofuscinosis	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
103084011	Adult neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103085012	Kufs' disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
103086013	Adult-type amaurotic idiocy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103087016	Late familial amaurotic idiocy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801134018	Adult neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232265017	Amaurotic idiocy late familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232266016	Kufs type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232267013	Amaurotic idiocy adult type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
86141000146116	ziekte van Kufs	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
937981000146114	ziekte van Kufs (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6739401000146112	NCL bij volwassene	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6739411000146114	neuronale ceroïdlipofuscinose bij volwassene	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7526661000146115	Dit is een stofwisselingsaandoening en een vorm van neuronale ceroïdlipofuscinosen. Het begint tussen het 15de en 35ste levensjaar.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)