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879939002: 14q32 deletion syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3994099015 14q32 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3994100011 14q32 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    14q32 deletion syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    14q32 deletion syndrome Is a Intellectual disability false Inferred relationship Some
    14q32 deletion syndrome Is a Deletion of part of chromosome 14 (disorder) false Inferred relationship Some
    14q32 deletion syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 1
    14q32 deletion syndrome Occurrence Congenital false Inferred relationship Some 1
    14q32 deletion syndrome Finding site Chromosome pair 14 false Inferred relationship Some 1
    14q32 deletion syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    14q32 deletion syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    14q32 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Some 2
    14q32 deletion syndrome Finding site Chromosome pair 14 false Inferred relationship Some 2
    14q32 deletion syndrome Occurrence Congenital false Inferred relationship Some 2
    14q32 deletion syndrome Occurrence Congenital false Inferred relationship Some 3
    14q32 deletion syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
    14q32 deletion syndrome Finding site Face structure false Inferred relationship Some 3
    14q32 deletion syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    14q32 deletion syndrome Is a Partial deletion of long arm of chromosome 14 (disorder) false Inferred relationship Some
    14q32 deletion syndrome Finding site Long arm of chromosome false Inferred relationship Some 2
    14q32 deletion syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 2
    14q32 deletion syndrome Interprets Intellectual ability false Inferred relationship Some 4
    14q32 deletion syndrome Has interpretation Impaired false Inferred relationship Some 4
    14q32 deletion syndrome Interprets Adaptation behavior (observable entity) false Inferred relationship Some 5
    14q32 deletion syndrome Has interpretation Impaired false Inferred relationship Some 5
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    SAME AS association reference set (foundation metadata concept)

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