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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 Reference Sets
    204118014 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Concept inactivation indicator reference set: Duplicate component (foundation metadata concept)
    204119018 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    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 Description inactivation indicator reference set: Concept non-current
    473318018 Classical galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    473319014 Galactose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    473320015 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    473321016 Galactose-1-phosphate uridyl transferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    473322011 GALT en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core Concept inactivation indicator reference set: Nonconformance to editorial policy component (foundation metadata concept)
    473323018 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    473324012 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    473325013 Classical galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    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 Description inactivation indicator reference set: Concept non-current

    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 (disorder) false Inferred relationship Some
    Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a Galactosaemia false Inferred relationship Some
    Deficiency of UTP-hexose-1-phosphate uridylyltransferase Finding site Body system structure false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Classical galactosemia, homozygous Duarte-type Is a False Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Some
    Classical galactosemia, heterozygous type Is a False Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Some
    Classical galactosemia, homozygous Negro-type Is a False Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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