149191000146104: Finse variant van late infantiele neuronale ceroïdlipofuscinose (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\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant

\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant

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

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant

\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant

\Degenerative disorder\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Infantile neuronal ceroid lipofuscinosis (disorder)\Late-infantile neuronal ceroid lipofuscinosis\Late-infantile neuronal ceroid lipofuscinosis, Finnish variant

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Late-infantile neuronal ceroid lipofuscinosis, Finnish variant	Is a	Late-infantile neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Late-infantile neuronal ceroid lipofuscinosis, Finnish variant	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Late-infantile neuronal ceroid lipofuscinosis, Finnish variant	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
Late-infantile neuronal ceroid lipofuscinosis, Finnish variant	Occurrence	Congenital	true	Inferred relationship	Some	1

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
12679441000146116	Late-infantile neuronal ceroid lipofuscinosis, Finnish variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12679451000146118	Late-infantile neuronal ceroid lipofuscinosis, Finnish variant (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12679461000146115	Finnish variant of late infantile NCL	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12679471000146114	CLN5 disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12679481000146111	Neuronal ceroid lipofuscinosis 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13063451000146112	neuronale ceroïdlipofuscinose type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13063461000146110	Finse variant van late infantiele neuronale ceroïdlipofuscinose	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13063471000146116	Finse variant van late infantiele neuronale ceroïdlipofuscinose (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13067001000146113	CLN5-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)