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259357003: Inborn errors of metabolism marker (substance)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
386249013 Inborn errors of metabolism marker en Synonym Active Case insensitive SNOMED CT core
650905012 Inborn errors of metabolism marker (substance) en Fully specified name Active Case insensitive SNOMED CT core

517 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn errors of metabolism marker Is a Body substance true Inferred relationship Some
Inborn errors of metabolism marker Is a Metabolites and metabolic markers false Inferred relationship Some
Inborn errors of metabolism marker Is a Metabolic marker false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Human alpha1 proteinase inhibitor Is a False Inborn errors of metabolism marker Inferred relationship Some
Bicarbonate Is a False Inborn errors of metabolism marker Inferred relationship Some
Long-chain-alcohol dehydrogenase Is a True Inborn errors of metabolism marker Inferred relationship Some
Amino acid metabolism disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Carbohydrate metabolism disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Glycoprotein and mucolipid storage disease marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Lactic acidaemia and mitochondrial disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Lipoprotein and neutral lipid disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Lysosomal storage disease marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Glycosaminoglycanoses marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Organic acid metabolism disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Peroxisomal disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Porphyrin and haem metabolism disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Propionate and methylmalonate metabolism disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Purine and pyrimidine metabolism disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Steroid metabolism disorder marker Is a True Inborn errors of metabolism marker Inferred relationship Some
Carbonic anhydrase Is a False Inborn errors of metabolism marker Inferred relationship Some
Mitochondrial adenosine triphosphate synthase subunit c Is a True Inborn errors of metabolism marker Inferred relationship Some
Phosphoethanolamine pyrophosphate Is a True Inborn errors of metabolism marker Inferred relationship Some

Reference Sets

Substance foundation reference set

Australian dialect reference set

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