Inborn errors of metabolism disorder marker measurement 250671007 SNOMED CT code SNOMED code 250671007 name Inborn errors of metabolism disorder marker measurement status active date introduced 2002-01-31 fully specified name(s) Inborn errors of metabolism disorder marker measurement (procedure) synonyms Inborn errors of metabolism disorder marker level Inborn errors of metabolism disorder marker measurement attributes - group1 Component Substance 105590001 attributes - group2 Method Measurement - action 129266000 parents Measurement of substance 430925007 children Blood (WBC) screen for a-fucosidosis 391439005 Blood (WBC) screen for a-mannosidosis 391312003 Blood (WBC) screen for b-mannosidosis 391440007 Blood (WBC) screen for GM1 gangliosidosis 391472005 Blood (WBC) screen for I cell disease 391441006 Blood (WBC) screen for infantile neuronal lipofuscinosis 391531005 Blood (WBC) screen for Krabbe's leukodystrophy 391533008 Blood (WBC) screen for metachromatic leukodystrophy 391580000 Blood (WBC) screen for MPS type VII 391442004 Blood (WBC) screen for Sandhoff disease 391313008 Blood (WBC) screen for Schindler disease 391473000 Blood (WBC) screen for Tay Sachs disease 391474006 Detection of glycosaminoglycans 250672000 Detection of porphyrins 250673005 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 71388002 128927009 386053000 122869004 430925007 250671007 ancestors sorted most to least specific
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