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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
    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
    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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Chromosome Xq28 trisomy Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Chromosome Xq28 trisomy Is a mental retardering false Inferred relationship Some
    Chromosome Xq28 trisomy Is a Anomaly of chromosome X false Inferred relationship Some
    Chromosome Xq28 trisomy Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
    Chromosome Xq28 trisomy Occurrence Congenital false Inferred relationship Some 2
    Chromosome Xq28 trisomy Occurrence Congenital false Inferred relationship Some 3
    Chromosome Xq28 trisomy Associated morphology Partial trisomy false Inferred relationship Some 2
    Chromosome Xq28 trisomy Finding site Sex chromosome X false Inferred relationship Some 2
    Chromosome Xq28 trisomy Associated morphology dysgenese false Inferred relationship Some 3
    Chromosome Xq28 trisomy Finding site Face structure false Inferred relationship Some 3
    Chromosome Xq28 trisomy Is a Intellectual disability false Inferred relationship Some
    Chromosome Xq28 trisomy Occurrence Congenital false Inferred relationship Some 1
    Chromosome Xq28 trisomy Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Chromosome Xq28 trisomy Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Chromosome Xq28 trisomy Finding site Face structure false Inferred relationship Some 1
    Chromosome Xq28 trisomy Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Chromosome Xq28 trisomy Finding site Long arm of chromosome false Inferred relationship Some 1
    Chromosome Xq28 trisomy Associated morphology Partial trisomy false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. In males the disease has characteristics of infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. The syndrome is due to Xq28 duplications (< 4 Mb) involving the dosage-sensitive gene MECP2. The pattern of inheritance is X-linked. The recurrence risk is significant if the duplication encompassing the MECP2 gene is inherited from the mother, but very low if the duplication is de novo. There is full disease penetrance in males and variable penetrance in females due to the level and type of X-inactivation. Is a False Chromosome Xq28 trisomy Inferred relationship Some
    A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. Is a False Chromosome Xq28 trisomy Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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