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719909009: Chromosome Xq28 trisomy (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    4570721014 Chromosome Xq28 trisomy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    4570722019 Chromosome Xq28 trisomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    4570723012 Trisomy Xq28 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3318426018 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The most frequently reported distal duplications involve the Xq28 segment and yield a phenotype including distinctive facial features, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and susceptibility to infections. Xq duplications may be caused either by an intrachromosomal duplication or by an unbalanced X/Y or X/autosome translocation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3318425019 Trisomy Xq28 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3318427010 Chromosome Xq28 trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3318428017 Chromosome Xq28 trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    4570721014 Chromosome Xq28 trisomy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    4570722019 Chromosome Xq28 trisomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    4570723012 Trisomy Xq28 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3318426018 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The most frequently reported distal duplications involve the Xq28 segment and yield a phenotype including distinctive facial features, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and susceptibility to infections. Xq duplications may be caused either by an intrachromosomal duplication or by an unbalanced X/Y or X/autosome translocation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3381331001000119 Xq28-Duplikationssyndrom, proximales de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3381331001000119 Xq28-Duplikationssyndrom, proximales de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Xq28-Duplikationssyndrom, proximales Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
    Xq28-Duplikationssyndrom, proximales Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
    Xq28-Duplikationssyndrom, proximales Is a Anomaly of chromosome X false Inferred relationship Existential restriction modifier (core metadata concept)
    Xq28-Duplikationssyndrom, proximales Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
    Xq28-Duplikationssyndrom, proximales Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Xq28-Duplikationssyndrom, proximales Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Xq28-Duplikationssyndrom, proximales Associated morphology Partial trisomy false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Xq28-Duplikationssyndrom, proximales Finding site Sex chromosome X (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Xq28-Duplikationssyndrom, proximales Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Xq28-Duplikationssyndrom, proximales Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Xq28-Duplikationssyndrom, proximales Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
    Xq28-Duplikationssyndrom, proximales Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Xq28-Duplikationssyndrom, proximales Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Xq28-Duplikationssyndrom, proximales Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Xq28-Duplikationssyndrom, proximales Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Xq28-Duplikationssyndrom, proximales Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Xq28-Duplikationssyndrom, proximales Finding site Long arm of chromosome (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Xq28-Duplikationssyndrom, proximales Associated morphology Partial trisomy false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a False Xq28-Duplikationssyndrom, proximales Inferred relationship Existential restriction modifier (core metadata concept)
    Distal Xq28 microduplication syndrome (disorder) Is a False Xq28-Duplikationssyndrom, proximales Inferred relationship Existential restriction modifier (core metadata concept)

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    POSSIBLY EQUIVALENT TO association reference set

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