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34420000: stapelingsziekte (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Storage disease	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Storage disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Storage disease	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of lysosomal enzyme	Is a	False	Storage disease	Inferred relationship	Some
HSMN IV	Is a	True	Storage disease	Inferred relationship	Some
Glycogen storage disease	Is a	True	Storage disease	Inferred relationship	Some
Restrictive cardiomyopathy secondary to familial storage disease	Is a	False	Storage disease	Inferred relationship	Some
Cystinosis	Is a	False	Storage disease	Inferred relationship	Some
Cholesterol ester storage disease	Is a	False	Storage disease	Inferred relationship	Some
Familial disease with storage of sterols (other than cholesterol)	Is a	True	Storage disease	Inferred relationship	Some
Dilated cardiomyopathy due to familial storage disease (disorder)	Is a	False	Storage disease	Inferred relationship	Some
Storage disease of the lung	Is a	False	Storage disease	Inferred relationship	Some
Zellweger syndrome	Is a	False	Storage disease	Inferred relationship	Some
Cystinosis (disorder)	Is a	False	Storage disease	Inferred relationship	Some
Dilated cardiomyopathy due to familial storage disease (disorder)	Associated with	False	Storage disease	Inferred relationship	Some	2
splenomegalie gelijktijdig met en door stapelingsziekte	Due to	False	Storage disease	Inferred relationship	Some	2
splenomegalie gelijktijdig met en door stapelingsziekte	Is a	False	Storage disease	Inferred relationship	Some
Cardiomyopathy due to storage disease	Due to	True	Storage disease	Inferred relationship	Some	1
Dilated cardiomyopathy due to lysosomal storage disease (disorder)	Due to	False	Storage disease	Inferred relationship	Some	2
Dilated cardiomyopathy due to familial storage disease (disorder)	Due to	True	Storage disease	Inferred relationship	Some	2
Enlargement of spleen due to storage disease (disorder)	Due to	True	Storage disease	Inferred relationship	Some	2
Lysosomal storage disease (disorder)	Is a	True	Storage disease	Inferred relationship	Some
Secondary adrenal insufficiency due to storage disease	Due to	False	Storage disease	Inferred relationship	Some	1
Adrenal cortical hypofunction due to storage disease (disorder)	Due to	True	Storage disease	Inferred relationship	Some	1

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
57457012	Storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
57458019	Storage disease, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
213736015	Thesaurosis	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
765941013	Storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6068771000146111	stapelingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6068781000146113	stapelingsziekte (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13081041000146117	Aandoeningen als gevolg van een gebrek aan een bepaald enzym, waardoor stofwisselingsproducten niet worden afgebroken, maar worden opgeslagen (gestapeld), wat leidt tot stoornissen in de functie van de betreffende organen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)