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\Hereditary disorder of nervous system\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\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:

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

2028591000005116 Neuronal ceroid lipofuskinose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	Degeneration	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	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
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	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