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70324008: 15q partial trisomy syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    116814019 15q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    810368017 15q partial trisomy 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
    15q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
    15q partial trisomy syndrome Is a Anomaly of chromosome pair 15 false Inferred relationship Some
    15q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
    15q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
    15q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
    15q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
    15q partial trisomy syndrome Finding site Chromosome pair 15 false Inferred relationship Some 1
    15q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
    15q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
    15q partial trisomy syndrome Finding site Chromosome pair 15 false Inferred relationship Some 1
    15q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some 1
    15q partial trisomy syndrome Finding site Chromosome pair 15 false Inferred relationship Some 1
    15q partial trisomy syndrome Associated morphology Partial trisomy false Inferred relationship Some 1
    15q partial trisomy syndrome Is a Partial trisomy of chromosome 15 (disorder) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. Is a False 15q partial trisomy syndrome Inferred relationship Some
    15q13.3 microduplication syndrome (disorder) Is a False 15q partial trisomy syndrome Inferred relationship Some
    A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Is a False 15q partial trisomy syndrome Inferred relationship Some
    Maternal 15q11q13 deletion Is a False 15q partial trisomy syndrome Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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