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