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


    Status: retired, Primitive. 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 Active Initial character case insensitive SNOMED CT core
    446917019 Cartilage hair syndrome with associated immunodeficiency en Synonym Active Case insensitive SNOMED CT core
    446918012 Cartilage-hair hypoplasia with associated immunodeficiency en Synonym Active Case insensitive SNOMED CT core
    700900013 Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency (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
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Cartilage structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Pathological process Pathological developmental process false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Pathological process Pathological developmental process false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology Congenital dysplasia false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Occurrence Congenital false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Pathological process Abnormal immune process false Inferred relationship Some 3
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology Dysplasia false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a Hereditary disorder of immune system false Inferred relationship Some
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Occurrence Congenital false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a Metaphyseal chondrodysplasia, McKusick type false Inferred relationship Some
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Interprets Height / growth measure false Inferred relationship Some 4
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology Congenital dysplasia false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Has definitional manifestation Immunodeficiency disorder false Inferred relationship Some
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Occurrence Congenital false Inferred relationship Some 3
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 3
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology Congenital dysplasia false Inferred relationship Some 3
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology Hypoplasia false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Bone structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Occurrence Congenital false Inferred relationship Some
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Cartilaginous tissue structure false Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Skeletal system structure false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology Dysplasia false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a Congenital immunodeficiency disease false Inferred relationship Some
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology Hypoplasia false Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site Cartilaginous tissue structure false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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