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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    561791000077117 anomalie congénitale (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly est un(e) (attribut) structure anormale sur le plan morphologique false Inferred relationship Some
    Congenital anomaly est un(e) (attribut) Developmental abnormality false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital absence of premaxilla morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    prolapsus d'une cuspide de la valve aortique morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital malposition of subclavian artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida with hydrocephalus - open morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Rachischisis with hydrocephalus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Abnormality of aortic arch branch morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Supernumerary cusps of the mitral valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Familial multiple café-au-lait macules without neurofibromatosis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Ebstein-like malformation of mitral valve (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital atresia of tricuspid valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital supravalvular mitral stenosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Double mitral valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Agenesis of cilia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Complete perimaxillary faciosynostosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    D - transposition of the great vessels (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Abnormality of right superior vena cava morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital rectovaginal constriction of Jersey cattle morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    Congenital rectovaginal constriction of Jersey cattle morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital mitral stenosis NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Atretic right superior vena cava morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital ptosis of upper eyelid morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Accessory lacrimal canal (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Thoracoceloschisis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital bronchomalacia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Posterior perimaxillary faciosynostosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of lacrimal passage morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus - closed morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 5
    Isolation of brachiocephalic trunk morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of eyelid morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Fissured spine with hydrocephalus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 7
    Congenital insufficiency of tricuspid valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Lack of ossification of mandible morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Tuberous sclerosis syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Isolation of common carotid artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Other lower limb and pelvic girdle anomaly NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified congenital eyelid anomalies morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Overriding mitral valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of premaxilla morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    fistule congénitale du cou morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Primordial cyst morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital fistula of lip (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital lower lip pits (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of tricuspid valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Ankyloblepharon morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital hiatus hernia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    Congenital hiatus hernia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    transposition totale des gros vaisseaux morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    [X]Unspecified spina bifida with hydrocephalus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 7
    Tricuspid leaflet abnormality morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Leydig cell agenesis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of tracheal cartilage morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Straddling mitral valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Transient mitral regurgitation of newborn morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenitally small punctum lacrimale morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital malformation of trachea and bronchus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Inferior vena cava connecting to morphological left atrium morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of broad ligament morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital undergrowth of whole of lower limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital insufficiency of mitral valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Dilatation of tricuspid annulus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    spina bifida avec hydrocéphalie (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Unilateral undescended testis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Absence of inferior vena cava morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Keratosis pilaris with ichthyosis and deafness morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Primary congenital bronchomalacia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Ebstein's anomaly with atrial septal defect morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of aortic valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital diverticulum of lacrimal canaliculus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Biliary malformation associated with renal tubular insufficiency morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Tricuspid valve prolapse morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of inferior vena cava morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Stenosis of systemic to pulmonary artery collateral artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Absence of superior vena cava morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Patent ductus venosus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of tongue morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Duplication of tibia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Cleft leaflet of mitral valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital lacrimal fistula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Aortic valve dysplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Persistent tuberculum impar morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    Mixed gonadal dysgenesis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Accessory tissue on tricuspid leaflet morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of oviduct morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Ankyloblepharon filiforme adnatum (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Epitheliogenesis imperfecta lingua bovis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Other congenital anomalies of upper leg morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of tricuspid valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital pectus excavatum (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus - open morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 7
    [X]Congenital malformation of tricuspid valve, unspecified morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Lack of ossification of tympanic anulus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Quadricuspid aortic valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Cyst of mesentery (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital tricuspid atresia or stenosis NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    [X]Other congenital malformations of diaphragm morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mandible morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    GB English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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