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62522004: Congenital hyperammonemia, type I (disorder)


    Status: retired, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

    Descriptions:

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


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital hyperammonaemia, type I Is a Enzymopathy false Inferred relationship Some
    Congenital hyperammonaemia, type I Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Congenital hyperammonaemia, type I Is a Hyperammonaemia false Inferred relationship Some
    Congenital hyperammonaemia, type I Is a Inborn error of metabolism false Inferred relationship Some
    Congenital hyperammonaemia, type I Is a Mitochondrial cytopathy false Inferred relationship Some
    Congenital hyperammonaemia, type I Finding site Body system structure false Inferred relationship Some
    Congenital hyperammonaemia, type I Occurrence Congenital false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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