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259357003: Inborn errors of metabolism 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
386249013 Inborn errors of metabolism marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
650905012 Inborn errors of metabolism marker (substance) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


506 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn errors of metabolism marker est un(e) (attribut) substance provenant du corps true Inferred relationship Some
Inborn errors of metabolism marker est un(e) (attribut) Metabolites and metabolic markers false Inferred relationship Some
Inborn errors of metabolism marker est un(e) (attribut) Metabolic marker (substance) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
alpha>1<antitrypsine est un(e) (attribut) False Inborn errors of metabolism marker Inferred relationship Some
Bicarbonate est un(e) (attribut) False Inborn errors of metabolism marker Inferred relationship Some
Long-chain-alcohol dehydrogenase est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Amino acid metabolism disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Carbohydrate metabolism disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Glycoprotein and mucolipid storage disease marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Lactic acidaemia and mitochondrial disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Lipoprotein and neutral lipid disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Lysosomal storage disease marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Glycosaminoglycanoses marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Organic acid metabolism disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Peroxisomal disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Porphyrin and heme metabolism disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Propionate and methylmalonate metabolism disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Purine and pyrimidine metabolism disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Steroid metabolism disorder marker est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Carbonic anhydrase est un(e) (attribut) False Inborn errors of metabolism marker Inferred relationship Some
Mitochondrial adenosine triphosphate synthase subunit c est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some
Phosphoethanolamine pyrophosphate est un(e) (attribut) True Inborn errors of metabolism marker Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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