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253931003: Synbrachydactyly (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    378045010 Synbrachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    644753015 Synbrachydactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    128771000077113 symbrachydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    symbrachydactylie Is a Brachydactyly false Inferred relationship Some
    symbrachydactylie Occurrence Congenital false Inferred relationship Some
    symbrachydactylie Associated morphology anomalie du développement false Inferred relationship Some
    symbrachydactylie Finding site Musculoskeletal system structure of digit (body structure) false Inferred relationship Some
    symbrachydactylie Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 3
    symbrachydactylie Finding site Finger structure false Inferred relationship Some
    symbrachydactylie Is a Disorder of hand (disorder) false Inferred relationship Some
    symbrachydactylie Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
    symbrachydactylie Is a Syndactyly (disorder) false Inferred relationship Some
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Associated morphology Congenital webbing false Inferred relationship Some 2
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 1
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 1
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 1
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 1
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 1
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 1
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 3
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 2
    symbrachydactylie Occurrence Congenital false Inferred relationship Some 1
    symbrachydactylie Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 1
    symbrachydactylie Occurrence Congenital false Inferred relationship Some 4
    symbrachydactylie Associated morphology Congenital abnormal fusion false Inferred relationship Some 4
    symbrachydactylie Finding site Digit structure false Inferred relationship Some 4
    symbrachydactylie Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
    symbrachydactylie Occurrence Congenital false Inferred relationship Some 2
    symbrachydactylie Finding site Entire digit false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Brachysyndactyly of thumb Is a False symbrachydactylie Inferred relationship Some
    Symbrachydactyly Is a False symbrachydactylie Inferred relationship Some
    Synbrachydactyly of hand Is a False symbrachydactylie Inferred relationship Some
    Symbrachydactyly Is a False symbrachydactylie Inferred relationship Some
    Symbrachydactyly of toe (disorder) Is a False symbrachydactylie Inferred relationship Some
    Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Is a False symbrachydactylie Inferred relationship Some
    Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Is a False symbrachydactylie Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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