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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 Reference Sets
386249013 Inborn errors of metabolism marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
650905012 Inborn errors of metabolism marker (substance) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

501 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn errors of metabolism marker Is a Metabolites and metabolic markers false Inferred relationship Some
Inborn errors of metabolism marker Is a Metabolic marker (substance) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
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
Human alpha1 proteinase inhibitor (substance) 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

Reference Sets

GB English

US English

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