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73184004: Pena-Shokeir phenotype (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    121541018 Pena-Shokeir phenotype en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    813544013 Pena-Shokeir phenotype (disorder) en Fully specified name 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
    Pena-Shokeir phenotype Is a Multisystem disorder false Inferred relationship Some
    Pena-Shokeir phenotype Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings false Inferred relationship Some
    Pena-Shokeir phenotype Finding site Brain structure false Inferred relationship Some 1
    Pena-Shokeir phenotype Occurrence Congenital false Inferred relationship Some
    Pena-Shokeir phenotype Associated morphology Congenital malformation false Inferred relationship Some
    Pena-Shokeir phenotype Occurrence Congenital false Inferred relationship Some 1
    Pena-Shokeir phenotype Associated morphology Developmental anomaly false Inferred relationship Some 1
    Pena-Shokeir phenotype Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Pena-Shokeir phenotype Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Pena-Shokeir syndrome type I (disorder) Is a False Pena-Shokeir phenotype Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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