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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
    11q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    10p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    17q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    4p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diastematomyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 9 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double Y syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    22q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete trisomy 18 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    17p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Akabane virus disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fetal disproportion due to fetal myelomeningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Freeman-Sheldon syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Complete trisomy 20 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 16 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Encephalocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    13p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    2p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    18p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical thyroid remnant Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 5 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Seckel syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Seckel syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida aperta Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida aperta Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anomaly of chromosome pair 18 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klippel-Trenaunay-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    2q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    10p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 9 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of aortic arch Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anomaly of chromosome pair 11 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Heterologous chimera Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fragile X syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rachischisis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Rachischisis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Homologous chimera Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    9p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    15q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Williams syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Alstrom syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Triploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous pulmonary venous drainage to superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 4
    18q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sirenoform monster Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of membranous labyrinth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial anomalous pulmonary venous connection Associated morphology False Congenital anomaly Inferred relationship Some 4
    Complete trisomy 8 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Limb reduction-ichthyosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rothmund-Thomson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 21 Associated morphology False Congenital anomaly Inferred relationship Some 1
    5p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    15q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 22 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Occult spinal dysraphism sequence Associated morphology False Congenital anomaly Inferred relationship Some 3
    Meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Complete trisomy 22 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bicuspid aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Polyploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    10q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coarctation of aorta Associated morphology False Congenital anomaly Inferred relationship Some 2
    Accessory adrenal cortex Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hemimyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    5p partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pituitary gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial tetrasomy of chromosome 9 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital chromosomal disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete trisomy 9 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    XX males Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hydrorhachis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 1 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Amyelencephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pleonotia Associated morphology False Congenital anomaly Inferred relationship Some 2
    14q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    19q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ossicles of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sotos' syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Septo-optic dysplasia sequence Associated morphology False Congenital anomaly Inferred relationship Some 3
    6q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Angelman syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida occulta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida occulta Associated morphology False Congenital anomaly Inferred relationship Some 3
    Amyoplasia congenita disruptive sequence Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spina bifida of lumbar region Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete trisomy 16 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    3p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    9p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    8p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete trisomy 10 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    XXXY syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete monosomy 21 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Amyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    1q partial trisomy syndrome 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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