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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
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Absence of inferior vena cava Associated morphology False kongenit anomali Inferred relationship Some 2
    Keratosis pilaris med iktyose og døvhed Associated morphology False kongenit anomali Inferred relationship Some 2
    Primary congenital bronchomalacia Associated morphology False kongenit anomali Inferred relationship Some 1
    Ebstein's anomaly with atrial septal defect Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of aortic valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital diverticulum of lacrimal canaliculus Associated morphology False kongenit anomali Inferred relationship Some 2
    Biliær malformation associeret med renal tubulær insufficiens Associated morphology False kongenit anomali Inferred relationship Some 2
    Tricuspid valve prolapse Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of inferior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    Stenosis of systemic to pulmonary artery collateral artery (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Absence of superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 2
    Patent ductus venosus Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of tongue Associated morphology False kongenit anomali Inferred relationship Some 3
    Duplication of tibia Associated morphology False kongenit anomali Inferred relationship Some 1
    Cleft leaflet of mitral valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital lacrimal fistula Associated morphology False kongenit anomali Inferred relationship Some 2
    Aortic valve dysplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Persistent tuberculum impar Associated morphology False kongenit anomali Inferred relationship Some 4
    Mixed gonadal dysgenesis Associated morphology False kongenit anomali Inferred relationship Some 2
    Accessory tissue on tricuspid leaflet Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenit ovidukt-anomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Ankyloblepharon filiforme adnatum (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Epitheliogenesis imperfecta lingua bovis Associated morphology False kongenit anomali Inferred relationship Some 2
    andre kongenitte anomalier af lår Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital abnormality of lower limb and pelvic girdle Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital pectus excavatum (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 7
    [X]Congenital malformation of tricuspid valve, unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Lack of ossification of tympanic anulus Associated morphology False kongenit anomali Inferred relationship Some 1
    Quadricuspid aortic valve (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Mesenteric cyst Associated morphology False kongenit anomali Inferred relationship Some 3
    Kongenit trikuspidalklapatresi eller -stenose, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 4
    [X]Other congenital malformations of diaphragm Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of mandible Associated morphology False kongenit anomali Inferred relationship Some 2
    longitudinel ameli af phalanges i fod Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of tongue Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital gastrointestinal-urinary tract fistula Associated morphology False kongenit anomali Inferred relationship Some 1
    Craniofacial microsomia Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomalier i tuba uterina og ligamentum latum uteri, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Lobulated tongue Associated morphology False kongenit anomali Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Supernumerary lacrimal punctum Associated morphology False kongenit anomali Inferred relationship Some 1
    L - transposition of the great vessels (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of whole lower limb (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Pili torti-deafness syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of face bones Associated morphology False kongenit anomali Inferred relationship Some 1
    Ductus venosus abnormality Associated morphology False kongenit anomali Inferred relationship Some 1
    Female epispadias (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital absence of both testes (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Andre anomalier i tuba uterina og ligamentum latum uteri Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of lower limb Associated morphology False kongenit anomali Inferred relationship Some 2
    Dybt hæmangiom i huden Associated morphology False kongenit anomali Inferred relationship Some 5
    Accessory tissue on aortic valve cusp Associated morphology False kongenit anomali Inferred relationship Some 1
    Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Agenesis of nasolacrimal duct Associated morphology False kongenit anomali Inferred relationship Some 1
    Anterior perimaxillary faciosynostosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of rib cartilage Associated morphology False kongenit anomali Inferred relationship Some 1
    Sacral spina bifida with hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 6
    Neurofibromatosis type 1 Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital stenosis of tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 2
    Myxoid transformation of tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit fissur af tungen Associated morphology False kongenit anomali Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital tracheomalacia Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 7
    Hydromyelocele med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 6
    [X]Other phakomatoses, not elsewhere classified Associated morphology False kongenit anomali Inferred relationship Some 1
    Exencephaly Associated morphology False kongenit anomali Inferred relationship Some 3
    Exencephaly Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital ectropion Associated morphology False kongenit anomali Inferred relationship Some 4
    Congenital fissure of epiglottis Associated morphology False kongenit anomali Inferred relationship Some 3
    Elephantiasis neurofibromatosa (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Andre anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent right superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 2
    Swans syndrom II Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit øjenlågsdeformitet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital synostosis of lower limb bones Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital pulmonary venous atrium Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 7
    Papillon-Lefèvre syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital entropion Associated morphology False kongenit anomali Inferred relationship Some 1
    Microgenia Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital dilatation of subclavian artery Associated morphology False kongenit anomali Inferred relationship Some 3
    Incomplete ossification of mandible Associated morphology False kongenit anomali Inferred relationship Some 1
    Triploidy, diploidy, mixoploidy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Associated morphology False kongenit anomali Inferred relationship Some 2
    13q partial trisomy syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    brankiogent rudiment Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital mandibular hyperplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False kongenit anomali Inferred relationship Some 4
    Iniencephaly - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Iniencephaly - open Associated morphology False kongenit anomali Inferred relationship Some 2
    Iniencephaly - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Iniencephaly - open Associated morphology False kongenit anomali Inferred relationship Some 4
    Thoracic spina bifida with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic spina bifida with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2

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