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259428003: marker voor lysosomale stapelingsziekte (substantie)

SNOMED CT Concept\Substance\Body substance\Inborn errors of metabolism marker\Lysosomal storage disease marker

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
Lysosomal storage disease marker	Is a	Inborn errors of metabolism marker	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acid esterase	Is a	False	Lysosomal storage disease marker	Inferred relationship	Some
Acid lipase	Is a	False	Lysosomal storage disease marker	Inferred relationship	Some
Asialo GM2	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Ceramidase	Is a	False	Lysosomal storage disease marker	Inferred relationship	Some
Cerebroside sulfatase activator	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
GM2-ganglioside activator protein (substance)	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Lysobisphosphatidic acid	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
N-Acetylglucosamine	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Sphingomyelinase	Is a	False	Lysosomal storage disease marker	Inferred relationship	Some
Sulfolipid	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Cerebrosidase	Is a	False	Lysosomal storage disease marker	Inferred relationship	Some
Cerebroside-sulfatase	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Acid phosphatase	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Beta-galactosidase	Is a	False	Lysosomal storage disease marker	Inferred relationship	Some
Ganglioside	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Beta-N-acetylhexosaminidase	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Mucopolysaccharide	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Cholesterol	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some
Triacylglycerol	Is a	True	Lysosomal storage disease marker	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
386335019	Lysosomal storage disease marker	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
386336018	Lipidoses marker	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
650991011	Lysosomal storage disease marker (substance)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13890281000146111	marker voor lipidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13890291000146113	marker voor lysosomale enzymafwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13890301000146112	marker voor lysosomale stapelingsziekte (substantie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13890311000146114	marker voor lysosomale stapelingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)