Coronavirus Infectious Disease Ontology

Last uploaded: February 16, 2024
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  • New Term Requests
    • Preferred Name

    Amino Acid Metabolism, Inborn Errors [Disease/Finding]
    Synonyms
    ID

    http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000369
    code

    C916
    Display_Name

    Amino Acid Metabolism, Inborn Errors
    imported from

    http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl
    label

    Amino Acid Metabolism, Inborn Errors [Disease/Finding]
    MeSH_CUI

    M0000918
    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_Name

    Amino Acid Metabolism, Inborn Errors
    NUI

    N0000000369
    prefixIRI

    NDF-RT:N0000000369
    prefLabel

    Amino Acid Metabolism, Inborn Errors [Disease/Finding]
    RxNorm_CUI

    1022859
    SNOMED_CID

    190680002

    42930003

    44779003
    Synonym

    Congenital Amino Acidopathies

    Amino Acidopathies, Congenital

    Amino Acid Metabolism Disorders, Inborn

    Inborn Errors, Amino Acid Metabolism

    Amino Acidopathies, Inborn

    Amino Acid Metabolism, Inborn Error
    UMLS_CUI

    C0002514
    subClassOf

    http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002005
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