62009002: Adult 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\Adult neuronal ceroid lipofuscinosis

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

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Adult neuronal ceroid lipofuscinosis

\Degenerative disorder\Neuronal ceroid lipofuscinosis\Adult 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\Adult 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\Adult neuronal ceroid lipofuscinosis

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

103084011 Adult neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

103085012 Kufs' disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

103086013 Adult-type amaurotic idiocy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

103087016 Late familial amaurotic idiocy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

801134018 Adult neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232265017 Amaurotic idiocy late familial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232266016 Kufs type neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232267013 Amaurotic idiocy adult type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adult neuronal ceroid lipofuscinosis	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Occurrence	Adulthood	true	Inferred relationship	Some	1
Adult neuronal ceroid lipofuscinosis	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Adult neuronal ceroid lipofuscinosis	Associated morphology	Dystrophy	false	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Adult neuronal ceroid lipofuscinosis	Occurrence	Congenital	false	Inferred relationship	Some	4
Adult neuronal ceroid lipofuscinosis	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	3
Adult neuronal ceroid lipofuscinosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Adult neuronal ceroid lipofuscinosis	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	4

Inbound Relationships

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This concept is not in any reference sets