Pediatric Terminology

Last uploaded: January 25, 2013

Preferred Name	Congenital_Metabolic_Disorder
Synonyms
ID	http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Metabolic_Disorder
ID	C34816
NCI_Definition	A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.
NCI_PT	Congenital Metabolic Disorder
NICHD_Definition	_
prefixIRI	Congenital_Metabolic_Disorder
prefLabel	Congenital_Metabolic_Disorder
Subset_Association1	NICHD Newborn Screening Terminology
Subset_Association2	Neonatal Research Network Terminology
SYN	Inborn_Error_of_Metabolism
subClassOf	http://www.owl-ontologies.com/Ontology1358660052.owl#Metabolic_Disease

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816	NCIT	LOOM
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_2709221	ONSTR	LOOM
http://purl.bioontology.org/ontology/ICPC2P/T80006	ICPC2P	LOOM
http://pat.nichd.nih.gov/maternalconditions/C0025521	PATMHC	LOOM
http://purl.obolibrary.org/obo/NCIT_C34816	BERO	LOOM