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259357003: marker voor aangeboren defect van stofwisseling (substantie)

SNOMED CT Concept\Substance\Body substance\Inborn errors of metabolism marker

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

Descriptions:

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	false	Inferred relationship	Some
Inborn errors of metabolism marker	Is a	Body 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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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
13892571000146110	marker voor aangeboren defect van stofwisseling (substantie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13892581000146112	merkstof voor aangeboren stofwisselingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13892591000146114	marker voor 'inborn error of metabolism'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13892601000146116	marker voor aangeboren defect van stofwisseling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)