42012007: Neuronal ceroid lipofuscinosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

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

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\Inborn error of metabolism\Storage disease\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\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis
\Metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\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

\Congenital disease (disorder)\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis

\Storage disease\Disorder of lysosomal enzyme\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

833771000052114 neuronal ceroid-lipofuscinos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained 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 (morphologic abnormality)	true	Inferred relationship	Some	1

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

This concept is not in any reference sets