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297257004: Glycerol kinase deficiency - contiguous gene syndrome (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    437746013 Glycerol kinase deficiency - contiguous gene syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    692569014 Glycerol kinase deficiency - contiguous gene syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    437746013 Glycerol kinase deficiency - contiguous gene syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    437746013 Glycerol kinase deficiency - contiguous gene syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    692569014 Glycerol kinase deficiency - contiguous gene syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    692569014 Glycerol kinase deficiency - contiguous gene syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3383501001000116 Mikrodeletionssyndrom Xp21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3383501001000116 Mikrodeletionssyndrom Xp21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Mikrodeletionssyndrom Xp21 Is a Deficiency of glycerol kinase false Inferred relationship Existential restriction modifier (core metadata concept)
    Mikrodeletionssyndrom Xp21 Finding site Body system structure 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)

    REPLACED BY association reference set (foundation metadata concept)

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