42012007: 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

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

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

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

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile neuronal ceroid lipofuscinosis (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Adult neuronal ceroid lipofuscinosis	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.	Is a	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic disorder due to neuronal ceroid lipofuscinosis	Due to	True	Neuronal ceroid lipofuscinosis	Inferred relationship	Existential restriction modifier (core metadata concept)	3

This concept is not in any reference sets

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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
70121010	Neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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 sensitive (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 sensitive (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	Only initial character 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	Only initial character 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
3382101001000118	Ceroid-Lipofuszinose, neuronale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
100411000077117	céroïde-lipofuscinose neuronale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
100411000077117	céroïde-lipofuscinose neuronale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382101001000118	Ceroid-Lipofuszinose, neuronale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module