National Drug File - Reference Terminology - Amino Acid Metabolism, Inborn Errors [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000000369 http://purl.bioontology.org/ontology/NDFRT/N0000000369
Preferred Name	Amino Acid Metabolism, Inborn Errors [Disease/Finding]
Synonyms	Inborn Errors, Amino Acid Metabolism Congenital Amino Acidopathies Amino Acid Metabolism, Inborn Error Amino Acid Metabolism Disorders, Inborn Amino Acid Metabolism, Inborn Errors Amino Acidopathies, Inborn Amino Acidopathies, Congenital
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Inborn Errors, Amino Acid Metabolism Congenital Amino Acidopathies Amino Acid Metabolism, Inborn Error Amino Acid Metabolism Disorders, Inborn Amino Acid Metabolism, Inborn Errors Amino Acidopathies, Inborn Amino Acidopathies, Congenital See more See less
prefLabel	Amino Acid Metabolism, Inborn Errors [Disease/Finding]
MESH DEFINITION	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
MESH DUI	D000592
MESH UI	M0000918
MeSH name	Amino Acid Metabolism, Inborn Errors
type	http://www.w3.org/2002/07/owl#Class
tui	T047
SNOMED CID	42930003 44779003 190680002
notation	N0000000369
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
NUI	N0000000369
cui	C0002514
NDFRT kind	DISEASE_KIND
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000002005

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