58258004: Infantile neuronal ceroid lipofuscinosis (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\...

\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 (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)
\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\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	Existential restriction modifier (core metadata concept)
Infantile neuronal ceroid lipofuscinosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Infantile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Infantile neuronal ceroid lipofuscinosis (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Infantile neuronal ceroid lipofuscinosis (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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

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
96816010	Infantile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	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	Only initial character 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	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
3440401001000114	Ceroid-Lipofuszinose, neuronale, infantile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
893111000172116	céroïde-lipofuscinose neuronale infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952631000172114	CLN (céroïde-lipofuscinose neuronale) infantile	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
893111000172116	céroïde-lipofuscinose neuronale infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952631000172114	CLN (céroïde-lipofuscinose neuronale) infantile	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440401001000114	Ceroid-Lipofuszinose, neuronale, infantile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module