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62522004: Congenital hyperammonemia, type I (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    103912015 Congenital hyperammonemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    103914019 CPS deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    103915018 CPS I deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    199104019 Carbamoylphosphate synthetase I deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    199105018 Carbamoyl-phosphate synthethase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    499317014 Congenital hyperammonaemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    801704018 Congenital hyperammonemia, type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1232343019 Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    1232344013 CPS - Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    103912015 Congenital hyperammonemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    103914019 CPS deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    103915018 CPS I deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    199104019 Carbamoylphosphate synthetase I deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    199105018 Carbamoyl-phosphate synthethase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    499317014 Congenital hyperammonaemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    801704018 Congenital hyperammonemia, type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1232343019 Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1232343019 Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    1232344013 CPS - Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1232344013 CPS - Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital hyperammonemia, type I Is a Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hyperammonemia, type I Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hyperammonemia, type I Is a Hyperammonemia false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hyperammonemia, type I Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hyperammonemia, type I Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hyperammonemia, type I Is a Inborn error of metabolism false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hyperammonemia, type I Is a Mitochondrial cytopathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

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

    POSSIBLY EQUIVALENT TO association reference set

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