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

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

    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 (core metadata concept) SNOMED CT core
    3440839018 Paraplegia, brachydactyly, cone-shaped epiphysis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3440840016 Fitzsimmons Guilbert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3440841017 This syndrome has characteristics of slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

    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 Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Brachydactyly syndrome type E false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Mental retardation false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Congenital paraplegia false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Spastic paraplegia false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Disorder of epiphysis false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Structure of central nervous system (body structure) false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Lower limb structure false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Some 5
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Some 6
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 7
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Some 7
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Bone structure of hand false Inferred relationship Some 7
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Abnormally short growth false Inferred relationship Some 6
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Entire digit false Inferred relationship Some 6
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital abnormal shape false Inferred relationship Some 5
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Structure of epiphysis false Inferred relationship Some 5
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a Intellectual disability false Inferred relationship Some
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Some 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Some 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence Congenital false Inferred relationship Some 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Bone structure of hand false Inferred relationship Some 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Structure of epiphysis false Inferred relationship Some 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Abnormally short growth false Inferred relationship Some 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology Congenital abnormal shape false Inferred relationship Some 2
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site Entire digit false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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