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254063003: Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    378212017 Autosomal recessive spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    378213010 Irapa type spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
    644903018 Autosomal recessive spondyloepimetaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Autosomal recessive spondyloepimetaphyseal dysplasia Is a Osteochondrodysplasia syndrome false Inferred relationship Some
    Autosomal recessive spondyloepimetaphyseal dysplasia Is a Spondyloepimetaphyseal disorder false Inferred relationship Some
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology Dysplasia false Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Finding site Skeletal system structure false Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Finding site Bone structure false Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Occurrence Congenital false Inferred relationship Some
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology Congenital malformation false Inferred relationship Some
    Autosomal recessive spondyloepimetaphyseal dysplasia Finding site Bone structure false Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Occurrence Congenital false Inferred relationship Some 2
    Autosomal recessive spondyloepimetaphyseal dysplasia Finding site Bone structure false Inferred relationship Some 2
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Spondyloepimetaphyseal dysplasia Irapa type (disorder) Is a False Autosomal recessive spondyloepimetaphyseal dysplasia Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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