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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
    Congenital absence of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 3
    Aortic valve cusp prolapse Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital malposition of subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Rachischisis with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Abnormality of aortic arch branch Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supernumerary cusps of the mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Ebstein-like malformation of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital atresia of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital supravalvular mitral stenosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Double mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Agenesis of cilia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    D - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 3
    Abnormality of right superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital rectovaginal constriction of Jersey cattle Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital rectovaginal constriction of Jersey cattle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital mitral stenosis NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Atretic right superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ptosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory lacrimal canal Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracoceloschisis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of lacrimal passage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 5
    Isolation of brachiocephalic trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fissured spine with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 7
    Congenital insufficiency of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lack of ossification of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tuberous sclerosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Isolation of common carotid artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other lower limb and pelvic girdle anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified congenital eyelid anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Overriding mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 3
    Fistula colli congenita Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primordial cyst Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital fistula of lip Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital lower lip pits Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ankyloblepharon Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hiatus hernia Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital hiatus hernia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete transposition of great vessels Associated morphology False Congenital anomaly Inferred relationship Some 4
    [X]Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 7
    Tricuspid leaflet abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Leydig cell agenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of tracheal cartilage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Straddling mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transient mitral regurgitation of newborn Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenitally small punctum lacrimale Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inferior vena cava connecting to morphological left atrium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of broad ligament Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital undergrowth of whole of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital insufficiency of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Dilatation of tricuspid annulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Unilateral undescended testis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Absence of inferior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ebstein's anomaly with atrial septal defect Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital diverticulum of lacrimal canaliculus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Biliary malformation associated with renal tubular insufficiency Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tricuspid valve prolapse Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of inferior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Stenosis of systemic to pulmonary artery collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absence of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent ductus venosus Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of tongue Associated morphology False Congenital anomaly Inferred relationship Some 3
    Duplication of tibia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cleft leaflet of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital lacrimal fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Aortic valve dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Persistent tuberculum impar Associated morphology False Congenital anomaly Inferred relationship Some 4
    Mixed gonadal dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Accessory tissue on tricuspid leaflet Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of oviduct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ankyloblepharon filiforme adnatum Associated morphology False Congenital anomaly Inferred relationship Some 3
    Epitheliogenesis imperfecta lingua bovis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other congenital anomalies of upper leg Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormality of lower limb and pelvic girdle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital pectus excavatum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 7
    [X]Congenital malformation of tricuspid valve, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lack of ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Quadricuspid aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Mesenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital tricuspid atresia or stenosis NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    [X]Other congenital malformations of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2

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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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