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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cervical myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cranial hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Some 4
    Reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of cerebrum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of cerebrum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of hypothalamus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cebocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Defective development of the cauda equina Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Middle ear anomaly, excluding ossicles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear osseous meatus atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear osseous meatus stricture Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tragus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft external sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular sinus and fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Subdiaphragmatic total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Some 3
    Antimongolism syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced autosomal translocation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 6 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 7 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 8 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 9 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 10 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 11 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 12 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 22 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy syndromes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, karyotype normal Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Congenital anomaly Inferred relationship Some 1
    XY, female phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome, XXYY Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Congenital anomaly Inferred relationship Some 1
    Additional sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sex chromosome mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XO/XY Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XO/XX Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XY/XXY Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic including XXXXY Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acephalothorax Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular sinus, pit or fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Fissured spine Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fissured spine Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelocele with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Some 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Arachnoid / ependymal cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Mermaid sirenomelia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of brain gyri Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stricture of osseous meatus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Malformation of throat Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absence of sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pseudotrisomy 18 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal deletion - mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, partial X deletion karyotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Ear auricle and external auditory canal absent Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft sinus and fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Deletion of long arm of chromosome 18 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of short arm of chromosome 18 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ear Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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