250671007: Inborn errors of metabolism disorder marker measurement (procedure)

SNOMED CT Concept\Procedure\Procedure by method\Evaluation procedure (procedure)\Measurement\Measurement of substance (procedure)\Inborn errors of metabolism disorder marker measurement

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

373735018 Inborn errors of metabolism disorder marker level en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

373736017 Inborn errors of metabolism disorder marker measurement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

641121015 Inborn errors of metabolism disorder marker measurement (procedure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2567401000172116 bepalen van marker voor aangeboren defect van stofwisseling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

2567411000172118 bepalen van merkstof voor 'inborn error of metabolism' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

2567421000172111 bepalen van marker voor aangeboren stoornis van metabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

2567431000172114 bepalen van marker voor aangeboren stofwisselingsstoornis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inborn errors of metabolism disorder marker measurement	Is a	Chemical procedure	false	Inferred relationship	Some
Inborn errors of metabolism disorder marker measurement	Has intent	Diagnostic intent (qualifier value)	false	Inferred relationship	Some
Inborn errors of metabolism disorder marker measurement	Method	Investigation - action	false	Inferred relationship	Some
Inborn errors of metabolism disorder marker measurement	Method	Evaluation - action	false	Inferred relationship	Some
Inborn errors of metabolism disorder marker measurement	Is a	Measurement of substance (procedure)	true	Inferred relationship	Some
Inborn errors of metabolism disorder marker measurement	Component	Substance	true	Inferred relationship	Some	1
Inborn errors of metabolism disorder marker measurement	Method	Measurement - action	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Detection of glycosaminoglycans	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Detection of porphyrins	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for a-mannosidosis	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for Sandhoff disease	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Urine galactitol level (procedure)	Is a	False	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Serum phytanic acid level (procedure)	Is a	False	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Urine orotic acid level (procedure)	Is a	False	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for a-fucosidosis	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for b-mannosidosis	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for I cell disease	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for MPS type VII	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood spot acylcarnitine (procedure)	Is a	False	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for GM1 gangliosidosis	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for Schindler disease	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for Tay Sachs disease	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for infantile neuronal lipofuscinosis	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for Krabbe's leukodystrophy	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some
Blood (WBC) screen for metachromatic leukodystrophy	Is a	True	Inborn errors of metabolism disorder marker measurement	Inferred relationship	Some

This concept is not in any reference sets