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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hearing disorder Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital deafness Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 20 Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False kongenit anomali Inferred relationship Some 1
    Syringomyelia and syringobulbia Associated morphology False kongenit anomali Inferred relationship Some 1
    Acrania Associated morphology False kongenit anomali Inferred relationship Some 1
    Acrania Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervikal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervikal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Torakal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Torakal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 4
    Lumbal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Spinalt hydromeningocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervikalt spinalt hydromeningocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervikalt hydromyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Torakalt hydromyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbalt hydromyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Spinalt meningocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervical spinal meningocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic spinal meningocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbar spinal meningocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervical meningomyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic meningomyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbar meningomyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervical myelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic myelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbar myelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis. Associated morphology False kongenit anomali Inferred relationship Some 2
    A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis. Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervical myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 1
    Thoracic myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Kranielt hydromeningocele Associated morphology False kongenit anomali Inferred relationship Some 4
    reduktionsdeformiteter af hjernen Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebrale anomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Agenesis of cerebrum Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalies of hypothalamus Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalies of cerebellum Associated morphology False kongenit anomali Inferred relationship Some 1
    Aplasia of cerebellum Associated morphology False kongenit anomali Inferred relationship Some 1
    Cebocephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    mangelfuld udvikling af cauda equina Associated morphology False kongenit anomali Inferred relationship Some 2
    Spinal cord hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    mellemøreanomali, eksklusive ossiklerne Associated morphology False kongenit anomali Inferred relationship Some 1
    atresi af ossøs del af meatus acusticus externus Associated morphology False kongenit anomali Inferred relationship Some 1
    striktur af ossøs del af meatus acusticus externus Associated morphology False kongenit anomali Inferred relationship Some 1
    Accessory tragus Associated morphology False kongenit anomali Inferred relationship Some 1
    brankialfure, -cyste eller -fistel; præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 2
    brankialfure, -cyste eller -fistel; præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 1
    Branchial cleft external sinus Associated morphology False kongenit anomali Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False kongenit anomali Inferred relationship Some 1
    Præaurikulær sinus og fistel Associated morphology False kongenit anomali Inferred relationship Some 3
    cervikoaural fistel Associated morphology False kongenit anomali Inferred relationship Some 2
    cervikoaural fistel Associated morphology False kongenit anomali Inferred relationship Some 3
    Subdiaphragmatic total anomalous pulmonary venous return Associated morphology False kongenit anomali Inferred relationship Some 1
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False kongenit anomali Inferred relationship Some 3
    antimongolismesyndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False kongenit anomali Inferred relationship Some 1
    Balanced autosomal translocation Associated morphology False kongenit anomali Inferred relationship Some 1
    Whole chromosome trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 6 Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 7 Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 8 Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 9 Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 10 Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 11 Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 12 Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 22 Associated morphology False kongenit anomali Inferred relationship Some 1
    total trisomi, mitotisk non-disjunktion Associated morphology False kongenit anomali Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False kongenit anomali Inferred relationship Some 1
    Partial trisomy syndromes Associated morphology False kongenit anomali Inferred relationship Some 1
    Turner's phenotype, karyotype normal Associated morphology False kongenit anomali Inferred relationship Some 1
    Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY Associated morphology False kongenit anomali Inferred relationship Some 1
    XY, female phenotype Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome, XXYY Associated morphology False kongenit anomali Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

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