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259428003: Lysosomal storage disease marker (substance)


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

Descriptions:

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


134 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lysosomal storage disease marker est un(e) (attribut) Inborn errors of metabolism marker true Inferred relationship Some

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

This concept is not in any reference sets

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