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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
    Spina bifida Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida Associated morphology False kongenit anomali Inferred relationship Some 3
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False kongenit anomali Inferred relationship Some 1
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida of lumbar region Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida of lumbar region Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital absence of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital absence of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital abnormal shape of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital bent hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital hypoplasia of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital hypoplasia of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 3
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False kongenit anomali Inferred relationship Some 1
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital blindness Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital blindness Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital strabismus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital strabismus Associated morphology False kongenit anomali Inferred relationship Some 3
    Acrania Associated morphology False kongenit anomali Inferred relationship Some 1
    Acrania Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    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 1
    Cervikal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    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 3
    Lumbal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbal spina bifida uden angivelse af hydrocephalus 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 1
    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 1
    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 1
    Lumbar myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical 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 1
    Thoracic 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
    Lumbar 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
    Sacral spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    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
    Spinal cord hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    brankialfure, -cyste eller -fistel; præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 1
    brankialfure, -cyste eller -fistel; præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 2
    cervikoaural fistel Associated morphology False kongenit anomali Inferred relationship Some 2
    cervikoaural fistel Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 1
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    åben defekt i rygsøjlen Associated morphology False kongenit anomali Inferred relationship Some 1
    åben defekt i rygsøjlen Associated morphology False kongenit anomali Inferred relationship Some 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False kongenit anomali Inferred relationship Some 1
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of nervous system of head/neck Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nervous system of head/neck Associated morphology False kongenit anomali Inferred relationship Some 2
    iniencefali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    iniencefali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Uspecificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Uspecificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 4
    Spina bifida med hydrocephalus, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida med hydrocephalus, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 4
    Anden specificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden specificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Anden spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 4
    Spina bifida uden angivelse af hydrocephalus, lokalisation uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden angivelse af hydrocephalus, lokalisation uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Uspecificeret spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelocystocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 1
    Myelocystocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelocystocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Myelocystocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Uspecificeret spina bifida uden hydrocephalus – åben Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret spina bifida uden hydrocephalus – åben Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida uden hydrocephalus – åben, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden hydrocephalus – åben, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Uspecificeret spina bifida uden hydrocephalus – lukket Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret spina bifida uden hydrocephalus – lukket Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    andre specificerede rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1

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