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


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


18 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Inborn errors of metabolism disorder marker measurement Has intent Diagnostic intent false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn errors of metabolism disorder marker measurement Method (attribute) Investigation - action false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn errors of metabolism disorder marker measurement Method (attribute) Evaluation - action (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn errors of metabolism disorder marker measurement Is a Measurement of substance (procedure) true Inferred relationship Existential restriction modifier (core metadata concept)
Inborn errors of metabolism disorder marker measurement Component Substance true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inborn errors of metabolism disorder marker measurement Method (attribute) Measurement - action (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Inborn errors of metabolism disorder marker measurement Method (attribute) Measurement - action (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

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

This concept is not in any reference sets

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