FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
    3302361012 Deletion of long arm of chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3302362017 Distal 17q deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3302363010 Distal monosomy 17q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3302364016 Telomeric deletion 17q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Deletion of long arm of chromosome 17 Is a Anomaly of chromosome pair 17 false Inferred relationship Some
    Deletion of long arm of chromosome 17 Is a Deletion of part of autosome false Inferred relationship Some
    Deletion of long arm of chromosome 17 Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
    Deletion of long arm of chromosome 17 Occurrence Congenital false Inferred relationship Some 1
    Deletion of long arm of chromosome 17 Finding site Chromosome pair 17 false Inferred relationship Some 1
    Deletion of long arm of chromosome 17 Associated morphology Deletion of long arm false Inferred relationship Some 2
    Deletion of long arm of chromosome 17 Occurrence Congenital false Inferred relationship Some 2
    Deletion of long arm of chromosome 17 Finding site Chromosome pair 17 false Inferred relationship Some 2
    Deletion of long arm of chromosome 17 Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 3
    Deletion of long arm of chromosome 17 Occurrence Congenital false Inferred relationship Some 3
    Deletion of long arm of chromosome 17 Finding site Chromosome pair 17 false Inferred relationship Some 3
    Inbound Relationships Type Active Source Characteristic Refinability Group
    17q23.1q23.2 microdeletion syndrome (disorder) Is a False Deletion of long arm of chromosome 17 Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

    Back to Start