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1003938005: Phenylketonuria due to tetrahydrobiopterin deficiency (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    4167012011 Phenylketonuria due to BH4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    4167014012 Phenylketonuria due to tetrahydrobiopterin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    4167524012 Phenylketonuria due to tetrahydrobiopterin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    6456901000241118 phénylcétonurie par déficit en tétrahydrobioptérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    phénylcétonurie par déficit en tétrahydrobioptérine Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    phénylcétonurie par déficit en tétrahydrobioptérine Is a Hyperphenylalaninemia false Inferred relationship Some
    phénylcétonurie par déficit en tétrahydrobioptérine Due to Disorder of tetrahydrobiopterin metabolism false Inferred relationship Some 1
    phénylcétonurie par déficit en tétrahydrobioptérine Is a A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. false Inferred relationship Some
    phénylcétonurie par déficit en tétrahydrobioptérine Occurrence Congenital false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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