42012007: 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

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

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

\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis

\Degenerative disorder\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
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile neuronal ceroid lipofuscinosis (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some
Myoclonic disorder due to neuronal ceroid lipofuscinosis (disorder)	Due to	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Some	3

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
70121010	Neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
70122015	Cerebromacular degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
70123013	Cerebromacular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
70124019	Pigmentary retinal lipoid neuronal heredodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
778865010	Neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
55661000146114	neuronale ceroïde lipofuscinose	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1763871000146110	neuronale ceroïdlipofuscinose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1763881000146112	neuronale ceroïdlipofuscinose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7547431000146110	Dit is een groep stofwisselingsziekten waarbij in de zenuwcellen een stof wordt opgestapeld.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)