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124353000: Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    204118014 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    204119018 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    204120012 Deficiency of UTP-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473318018 Classical galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473319014 Galactose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473320015 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    473321016 Galactose-1-phosphate uridyl transferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473322011 GALT en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    473323018 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473324012 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473325013 Classical galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    728019013 Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    204118014 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    204118014 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    204119018 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    204119018 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    204120012 Deficiency of UTP-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473318018 Classical galactosemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473318018 Classical galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473319014 Galactose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473319014 Galactose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473320015 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    473321016 Galactose-1-phosphate uridyl transferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473321016 Galactose-1-phosphate uridyl transferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473322011 GALT en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    473323018 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473323018 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473324012 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473324012 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    473325013 Classical galactosaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    473325013 Classical galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    728019013 Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a Deficiency of transferase false Inferred relationship Existential restriction modifier (core metadata concept)
    Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a Galactosaemia false Inferred relationship Existential restriction modifier (core metadata concept)
    Deficiency of UTP-hexose-1-phosphate uridylyltransferase Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Classical galactosemia, homozygous Duarte-type (disorder) Is a False Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier (core metadata concept)
    Classical galactosemia, heterozygous type Is a False Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier (core metadata concept)
    Classical galactosemia, homozygous Negro-type Is a False Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier (core metadata concept)

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    POSSIBLY EQUIVALENT TO association reference set

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