58258004: 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)

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

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)

\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)
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)

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

\Degenerative disorder\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)

\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)
\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)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)

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
Infantile neuronal ceroid lipofuscinosis (disorder)	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Infantile neuronal ceroid lipofuscinosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Infantile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some
Infantile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Infantile neuronal ceroid lipofuscinosis (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
Infantile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Late-infantile neuronal ceroid lipofuscinosis	Is a	True	Infantile neuronal ceroid lipofuscinosis (disorder)	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Is a	True	Infantile neuronal ceroid lipofuscinosis (disorder)	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 6A (disorder)	Is a	True	Infantile neuronal ceroid lipofuscinosis (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
96816010	Infantile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96817018	Hagberg-Santavuori disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96818011	Santavuori disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96819015	Neuronal ceroid lipofuscinosis, infantile Finnish type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96820014	Polyunsaturated acid lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
796970016	Infantile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231818019	Hagberg-Santavouri type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1231819010	Neuronal ceroid lipofuscinosis infantile Finnish type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1231820016	Polyunsaturated fatty acid lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231821017	Haltia-Santavouri type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6198341000146110	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)
6198351000146113	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)
6876721000146116	NCL-1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6876731000146119	ziekte van Santavuori-Hagberg	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7096881000146119	ziekte van Haltia-Santavuori	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7544831000146116	Dit is een vorm van neuronale ceroïdlipofuscinosen die begint voor het tweede levensjaar.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)