14637005: laat-infantiele neuronale ceroïdlipofuscinose (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\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis

\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile 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\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis

\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis

\Degenerative disorder\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile 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\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile 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\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Late-infantile neuronal ceroid lipofuscinosis, Finnish variant	Is a	True	Late-infantile neuronal ceroid lipofuscinosis	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
24862012	Late-infantile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
24863019	Bielschowsky-Jansky disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
24864013	Amaurotic idiocy, early juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
24865014	Amaurotic idiocy, late infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
24866010	Dollinger-Bielschowsky syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
476483011	Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
476484017	Bielschowsky-Jansky type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
476485016	Amaurotic idiocy early juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
476486015	Amaurotic idiocy late infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
476487012	Late infantile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
740827011	Late-infantile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12734901000146118	laat-infantiele neuronale ceroïdlipofuscinose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12734911000146116	laat-infantiele neuronale ceroïdlipofuscinose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12734931000146111	laat-infantiele NCL	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13181931000146116	ziekte van Jansky-Bielschowsky	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13181941000146112	Jansky-Bielschowsky-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7678651000146114	Deze stofwisselingsaandoening is een vorm van neuronale ceroïde lipofuscinosen, die begint tussen het tweede en vierde levensjaar.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)