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304576008: Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    446916011 Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    446917019 Cartilage hair syndrome with associated immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    446918012 Cartilage-hair hypoplasia with associated immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    700900013 Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    2007481000052115 metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Is a Metaphyseal chondrodysplasia, McKusick type false Inferred relationship Some
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Associated morphology Hypoplasia false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Occurrence Congenital false Inferred relationship Some
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site broskvävnad, struktur false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Skeletal system structure false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Associated morphology Dysplasia false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Associated morphology kongenital dysplasi false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Has definitional manifestation Immunodeficiency disorder false Inferred relationship Some
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Occurrence Congenital false Inferred relationship Some 3
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Bone structure false Inferred relationship Some 3
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Associated morphology kongenital dysplasi false Inferred relationship Some 3
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Is a Congenital immunodeficiency disease false Inferred relationship Some
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Associated morphology Hypoplasia false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site broskvävnad, struktur false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Finding site Cartilage structure (body structure) false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Associated morphology kongenital dysplasi false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Occurrence Congenital false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Pathological process (attribute) Abnormal immune process (qualifier value) false Inferred relationship Some 3
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Associated morphology Dysplasia false Inferred relationship Some 2
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Is a Hereditary disorder of immune system false Inferred relationship Some
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Occurrence Congenital false Inferred relationship Some 1
    metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist Interprets Height / growth measure false Inferred relationship Some 4

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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