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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
386249013 Inborn errors of metabolism marker en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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

509 descendants. Search Descendants:

Expanded Value Set

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

Reference Sets

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