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773578004: Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3724268018 Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3724269014 Spondylocostal dysostosis, hypospadias, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3724270010 A rare genetic bone developmental disorder characterised by generalised vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3724271014 A rare genetic bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. 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
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Finding of vertebra false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 2
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 3
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Associated morphology Congenital malposition false Inferred relationship Some 2
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Finding site Structure of urethral meatus false Inferred relationship Some 2
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Disorder of vertebral column (disorder) false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 1
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Finding site Bone structure of spine false Inferred relationship Some 1
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Hypospadias (disorder) false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Finding site Bone structure of rib false Inferred relationship Some 3
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Intellectual disability false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Congenital anomaly of spine false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Congenital anomaly of rib false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Dysostosis false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Hereditary disorder of the urinary system false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Multiple system malformation syndrome false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Associated morphology Dysplasia false Inferred relationship Some 1
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Associated morphology Dysplasia false Inferred relationship Some 2
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Associated morphology Malposition (morphologic abnormality) false Inferred relationship Some 3
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Finding site Bone structure of rib false Inferred relationship Some 1
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Finding site Bone structure of spine false Inferred relationship Some 2
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Finding site Structure of urethral meatus false Inferred relationship Some 3
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a Lesion of vertebra (finding) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

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