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768472004: X-linked acrogigantism (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3685718010 Chromosome Xq26.3 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3685719019 X-linked acrogigantism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3685720013 X-linked acrogigantism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3685721012 Chromosome Xq26 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3685722017 X-linked acrogigantism (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3685723010 Pituitary abnormality that causes abnormally fast growth in infancy or early childhood. Individuals may present with hyperplasia of the pituitary gland or a benign pituitary adenoma. Rarely both pituitary hyperplasia and an adenoma may be present. The abnormal pituitary gland releases excess amounts of growth hormone and in some cases excess amounts of growth hormone releasing hormone. Additional manifestations of the disorder include coarse facial features, acral enlargement, an increased appetite and acanthosis nigricans. Caused by duplication on the X chromosome, the duplication, often referred to as an Xq26.3 microduplication, occurs on the long (q) arm of the chromosome at a location designated q26.3. The disease follows an X-linked dominant inheritance pattern. In females, the condition results from de novo duplications involving the GPR101 gene. In males, the condition often results from somatic mosaicism. Other affected males inherit the duplication from their affected mother. 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
    X-linked acrogigantism Due to Increased hormone secretion false Inferred relationship Some 4
    X-linked acrogigantism Occurrence Congenital false Inferred relationship Some 2
    X-linked acrogigantism Is a Anomaly of chromosome X false Inferred relationship Some
    X-linked acrogigantism Occurrence Congenital false Inferred relationship Some 1
    X-linked acrogigantism Is a Hypersomatotropic gigantism false Inferred relationship Some
    X-linked acrogigantism Finding site Sex chromosome X false Inferred relationship Some 2
    X-linked acrogigantism Associated morphology Partial trisomy false Inferred relationship Some 2
    X-linked acrogigantism Associated morphology Growth acceleration false Inferred relationship Some 1
    X-linked acrogigantism Finding site Structure of pars distalis of pituitary (body structure) false Inferred relationship Some 1
    X-linked acrogigantism Has interpretation Increased false Inferred relationship Some 3
    X-linked acrogigantism Interprets Hormone production false Inferred relationship Some 3
    X-linked acrogigantism Is a Hereditary disorder of nervous system false Inferred relationship Some
    X-linked acrogigantism Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Some
    X-linked acrogigantism Is a X-linked hereditary disease false Inferred relationship Some
    X-linked acrogigantism Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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