720830009: Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (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\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

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

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

\Degenerative disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322212017 Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3322213010 Congenital neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322214016 Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3322220015 Neuronal ceroid lipofuscinosis due to cathepsin D deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3322221016 Neuronal ceroid lipofuscinosis 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3535042018 Cathepsin D deficient neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Due to	Deficiency of cathepsin D (disorder)	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets