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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
    Dystrophic epidermolysis bullosa inverse type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa pruriginosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localised congenital cutis laxa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple café-au-lait macules due to neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Multiple neurofibromas in neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Plexiform neurofibroma Associated morphology False Congenital anomaly Inferred relationship Some
    Elephantiasis neurofibromatosa Associated morphology False Congenital anomaly Inferred relationship Some 3
    Café-au-lait macules with pulmonary stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Periungual fibroma in tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of digit Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cavitation Is a False Congenital anomaly Inferred relationship Some
    Congenital atresia Is a False Congenital anomaly Inferred relationship Some
    Congenital impairment Is a False Congenital anomaly Inferred relationship Some
    Embryonal rest AND/OR persistent embryonic structure Is a False Congenital anomaly Inferred relationship Some
    Dextroposition of ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dextroposition of ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cleft palate, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral congenital macrostomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalous termination of right pulmonary vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pure gonadal dysgenesis 46,XX Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pure gonadal dysgenesis 46,XX Associated morphology False Congenital anomaly Inferred relationship Some 3
    Unilateral cleft hard palate Associated morphology False Congenital anomaly Inferred relationship Some 2
    Opitz-Frias syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of fallopian tube and broad ligament Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of left pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tricuspid leaflet dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral maldescent of testis Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epiblepharon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lingual thyroid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lingual thyroid Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital tracheo-oesophageal cleft Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other tongue anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other tongue anomalies Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital atresia of nares Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent ductus arteriosus with left-to-right shunt Associated morphology False Congenital anomaly Inferred relationship Some 3
    Vascular ring, aorta Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tongue absent Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hooded penis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cleft hard palate NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypertelorism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Mitral papillary muscle abnormality Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent ductus arteriosus - delayed closure Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Systemic to pulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 4
    Double orifice of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tissue on mitral leaflet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bifid epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Facial asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypopigmentation of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of great arteries Associated morphology False Congenital anomaly Inferred relationship Some 2
    Residual cyst Associated morphology False Congenital anomaly Inferred relationship Some 3
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 3
    Overriding tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undescended testes - bilateral Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of lower limb(s), including pelvic girdle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cryptophthalmos Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital phimosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tricuspid atresia and stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fused mitral papillary muscles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Straddling tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Dentigerous cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Closed ductus venosus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bronchopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bronchopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lateral developmental cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Embryonic cyst of broad ligament Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete cleft hard and soft palate Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring of lower limb with lymphoedema Associated morphology False Congenital anomaly Inferred relationship Some 2
    Talipes equinovarus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vascular rings Associated morphology False Congenital anomaly Inferred relationship Some 2
    Collaterals to pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Collaterals to pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Solitary aortic trunk with pulmonary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fallopian tube and broad ligament anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete cleft palate NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital mitral stenosis, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital parameatal cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bifid tongue Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lutembacher's anomaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital misalignment of palate rugae Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tarsal kink Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duplication of tarsal bone 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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