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725292008: Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    3440838014 Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
    3440839018 Paraplegia, brachydactyly, cone-shaped epiphysis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
    3440840016 Fitzsimmons Guilbert syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Multiple malformation syndrome with limb defect as major feature false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Brachydactyly syndrome type E false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Congenital paraplegia false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Spastic paraplegia false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Disorder of epiphysis false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Lower limb structure false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 6
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 7
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Bone structure of hand false Inferred relationship Existential restriction modifier 7
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier 6
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Entire digit false Inferred relationship Existential restriction modifier 6
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital abnormal shape false Inferred relationship Existential restriction modifier 5
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier 5
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Intellectual disability false Inferred relationship Existential restriction modifier
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Bone structure of hand false Inferred relationship Existential restriction modifier 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital abnormal shape false Inferred relationship Existential restriction modifier 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Entire digit false Inferred relationship Existential restriction modifier 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    This concept is not in any reference sets

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