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715365000: Deletion of long arm of chromosome 17 (disorder)


    Status: retired, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3302360013 Deletion of long arm of chromosome 17 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
    3302361012 Deletion of long arm of chromosome 17 en Synonym Active Case insensitive SNOMED CT core
    3302362017 Distal 17q deletion en Synonym Active Case insensitive SNOMED CT core
    3302363010 Distal monosomy 17q en Synonym Active Case insensitive SNOMED CT core
    3302364016 Telomeric deletion 17q en Synonym Active Case insensitive SNOMED CT core
    3302365015 A very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. en Definition Active Case sensitive SNOMED CT core
    3302433019 A very rare chromosomal disorder of unknown prevalence characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. en Definition Active Case sensitive SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Distal monosomy 17q Is a Anomaly of chromosome pair 17 false Inferred relationship Some
    Distal monosomy 17q Is a Deletion of part of autosome false Inferred relationship Some
    Distal monosomy 17q Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
    Distal monosomy 17q Occurrence Congenital false Inferred relationship Some 1
    Distal monosomy 17q Finding site Chromosome pair 17 false Inferred relationship Some 1
    Distal monosomy 17q Associated morphology Deletion of long arm false Inferred relationship Some 2
    Distal monosomy 17q Occurrence Congenital false Inferred relationship Some 2
    Distal monosomy 17q Finding site Chromosome pair 17 false Inferred relationship Some 2
    Distal monosomy 17q Associated morphology Partial monosomy false Inferred relationship Some 3
    Distal monosomy 17q Occurrence Congenital false Inferred relationship Some 3
    Distal monosomy 17q Finding site Chromosome pair 17 false Inferred relationship Some 3

    Inbound Relationships Type Active Source Characteristic Refinability Group
    17q23.1q23.2 microdeletion syndrome Is a False Distal monosomy 17q Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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