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1032131000000104: Inborn errors of metabolism disorder marker observable (observable entity)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 01-Apr 2016. Module: SNOMED CT United Kingdom clinical extension module

Descriptions:

Id Description Lang Type Status Case? Module
2606531000000114 Inborn errors of metabolism disorder marker observable en Synonym Active Only initial character case insensitive SNOMED CT United Kingdom clinical extension module
2606541000000117 Inborn errors of metabolism disorder marker observable (observable entity) en Fully specified name Active Only initial character case insensitive SNOMED CT United Kingdom clinical extension module

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn errors of metabolism disorder marker observable Is a Substance observable true Inferred relationship Existential restriction modifier
Inborn errors of metabolism disorder marker observable Is a Screening test observable true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Blood (white blood cell) screen for I cell disease (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for metachromatic leukodystrophy (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for infantile neuronal lipofuscinosis (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for Krabbe's leukodystrophy (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for a-mannosidosis (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Faecal protoporphyrin level Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for b-mannosidosis (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
24 hour urine delta aminolaevulinic acid output Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for a-fucosidosis (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
24 hour urine porphyrin output Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for GM1 gangliosidosis (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for Sandhoff disease (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for mucopolysaccharidosis type VII (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for Schindler disease (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier
Blood (white blood cell) screen for Tay Sachs disease (observable entity) Is a True Inborn errors of metabolism disorder marker observable Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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