Inborn errors of metabolism disorder marker observable

Inborn errors of metabolism disorder marker observable (observable entity)

active

Code	`1032131000000104`
Semantic tag	observable entity
Module	uk-edition
Definition	primitive
Effective time	20160401

Parents (2)

1032221000000105Screening test observable observable entity
373063009Substance observable observable entity

Children (15)

102406100000010324 hour urine delta aminolaevulinic acid output observable entity
102389100000010124 hour urine porphyrin output observable entity
1017601000000109Blood (WBC) screen for GM1 gangliosidosis observable entity
1020031000000101Blood (WBC) screen for I cell disease observable entity
1020051000000108Blood (WBC) screen for Krabbe's leukodystrophy observable entity
1020071000000104Blood (WBC) screen for MPS type VII observable entity
1020081000000102Blood (WBC) screen for Sandhoff disease observable entity
1020091000000100Blood (WBC) screen for Schindler disease observable entity
1020101000000108Blood (WBC) screen for Tay Sachs disease observable entity
1014671000000108Blood (WBC) screen for a-fucosidosis observable entity
1017581000000100Blood (WBC) screen for a-mannosidosis observable entity
1017591000000103Blood (WBC) screen for b-mannosidosis observable entity
1020041000000105Blood (WBC) screen for infantile neuronal lipofuscinosis observable entity
1020061000000106Blood (WBC) screen for metachromatic leukodystrophy observable entity
1014871000000109Faecal protoporphyrin level observable entity