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Terminology chevron_right Concepts chevron_right 250671007

Production

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Component

250671007

The component that hold information about this concept.

Fully Specified Name (FSN)

Inborn errors of metabolism disorder marker measurement (procedure)

Shortest Term

Inborn errors of metabolism disorder marker level

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Inborn errors of metabolism disorder marker measurement (procedure)

SCTID: 250671007, Primitive, Active

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

en Inborn errors of metabolism disorder marker level
en Inborn errors of metabolism disorder marker measurement
en Inborn errors of metabolism disorder marker measurement (procedure)

Expression

250671007 |Inborn errors of metabolism disorder marker measurement (procedure)|
 <<< 430925007 |Measurement of substance (procedure)| : 
        { 246093002 |Component (attribute)| = 105590001 |Substance (substance)|,
260686004 |Method (attribute)| = 129266000 |Measurement - action (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
373735018 - Inborn errors of metabolism disorder marker level (en) View
373735018	en	Synonym (core metadata concept)	Inborn errors of metabolism disorder marker level	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
373736017 - Inborn errors of metabolism disorder marker measurement (en) View
373736017	en	Synonym (core metadata concept)	Inborn errors of metabolism disorder marker measurement	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
641121015 - Inborn errors of metabolism disorder marker measurement (procedure) (en) View
641121015	en	Fully specified name (core metadata concept)	Inborn errors of metabolism disorder marker measurement (procedure)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3421067022) - 250671007 -> 129266000 (260686004) View
260686004 \|Method (attribute)\|	129266000 \|Measurement - action (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16071710024) - 250671007 -> 129266000 (260686004) View
260686004 \|Method (attribute)\|	129266000 \|Measurement - action (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3421066029) - 250671007 -> 105590001 (246093002) View
246093002 \|Component (attribute)\|	105590001 \|Substance (substance)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (69905023) - 250671007 -> 83762000 (116680003) View
116680003 \|Is a (attribute)\|	83762000 \|Chemical procedure (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3286065021) - 250671007 -> 430925007 (116680003) View
116680003 \|Is a (attribute)\|	430925007 \|Measurement of substance (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1953811029) - 250671007 -> 129265001 (260686004) View
260686004 \|Method (attribute)\|	129265001 \|Evaluation - action (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (560615028) - 250671007 -> 360224006 (260686004) View
260686004 \|Method (attribute)\|	360224006 \|Investigation - action (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (560614029) - 250671007 -> 261004008 (363703001) View
363703001 \|Has intent (attribute)\|	261004008 \|Diagnostic intent (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
430925007 View
430925007	Measurement of substance (procedure)	Measurement of substance	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
391312003 View
391312003	Blood (white blood cell) screen for a-mannosidosis (procedure)	Blood (wbc) screen for a-mannosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391313008 View
391313008	Blood (wbc) screen for sandhoff disease (procedure)	Blood (wbc) screen for sandhoff disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391439005 View
391439005	Blood screen for a-fucosidosis (procedure)	Blood screen for a-fucosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391440007 View
391440007	Blood (white blood cell) screen for b-mannosidosis (procedure)	Blood (wbc) screen for b-mannosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391441006 View
391441006	Blood (wbc) screen for i cell disease (procedure)	Blood (wbc) screen for i cell disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391442004 View
391442004	Blood (wbc) screen for mps type vii (procedure)	Blood (wbc) screen for mps type vii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391472005 View
391472005	Blood (wbc) screen for gm1 gangliosidosis (procedure)	Blood (wbc) screen for gm1 gangliosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391473000 View
391473000	Blood (wbc) screen for schindler disease (procedure)	Blood (wbc) screen for schindler disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391474006 View
391474006	Blood screen for tay sachs disease (procedure)	Blood screen for tay sachs disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391531005 View
391531005	Blood (white blood cell) screen for infantile neuronal lipofuscinosis (procedure)	Blood (wbc) screen for infantile neuronal lipofuscinosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391533008 View
391533008	Blood (wbc) screen for krabbe's leukodystrophy (procedure)	Blood (wbc) screen for krabbe leukodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
391580000 View
391580000	Blood (white blood cell) screen for metachromatic leukodystrophy (procedure)	Blood (wbc) screen for metachromatic leukodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
250672000 View
250672000	Detection of glycosaminoglycans (procedure)	Presence of glycosaminoglycans	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
250673005 View
250673005	Detection of porphyrins (procedure)	Presence of porphyrins	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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