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107656002: congenitale anomalie (afwijkende morfologie)


    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
    1190181000146119 aangeboren afwijking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    1190191000146117 congenitale anomalie (afwijkende morfologie) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    1829111000146118 congenitale anomalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    congenitale anomalie (afwijkende morfologie) Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    congenitale anomalie (afwijkende morfologie) Is a gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hearing disorder Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital deafness Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomaly of chromosome pair 20 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Syringomyelia and syringobulbia Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Acrania Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Acrania Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 4
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Spinal hydromeningocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical spinal hydromeningocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical hydromyelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Thoracic hydromyelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    lumbale hydromyelocele (aandoening) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Spinal meningocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical spinal meningocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Thoracic spinal meningocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar spinal meningocele (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical meningomyelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Thoracic meningomyelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar meningomyelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical myelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Thoracic myelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar myelocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Myelocystocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Myelocystocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical myelocystocele (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Cervical myelocystocele (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Thoracic myelocystocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Thoracic myelocystocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - open Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - open (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - closed (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - closed (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    craniële hydromeningocele (aandoening) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 4
    congenitale hypoplastische deformiteit van hersenen Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomalies of cerebrum Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Agenesis of cerebrum Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomalies of hypothalamus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomalies of cerebellum Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Aplasia of cerebellum Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Cebocephaly Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    ontwikkelingsstoornis van cauda equina Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Spinal cord hypoplasia Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Middle ear anomaly, excluding ossicles Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Ear osseous meatus atresia Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Ear osseous meatus stricture Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Accessory tragus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Branchial cleft external sinus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Preauricular sinus and fistula Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    cervicoaurale fistel (aandoening) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    cervicoaurale fistel (aandoening) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Subdiaphragmatic total anomalous pulmonary venous return Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 3
    Antimongolism syndrome Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    gebalanceerde autosomale translocatie Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Whole chromosome trisomy syndrome Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 6 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 7 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 8 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 9 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 10 (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 11 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 12 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 22 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Whole chromosome trisomy, meiotic nondisjunction Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Partial trisomy syndromes Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Turner's phenotype, karyotype normal (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    XY, female phenotype Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Klinefelter's syndrome, XXYY (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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