720830009: neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie (aandoening)

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)\...

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

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	degeneratie (afwijkende morfologie)	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
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
10027551000146111	neuronale ceroïdlipofuscinose door deficiëntie van cathepsine D	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10027561000146114	neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10027571000146115	neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)