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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
    Lungeagenese, hypoplasi og dysplasi Associated morphology False kongenit anomali Inferred relationship Some 1
    Inverted pelvis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 2 Associated morphology False kongenit anomali Inferred relationship Some
    Kongenit abnormitet af atrier og atrieseptum Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformation of circulatory system, unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy X syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Sacral spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Pulmonary trunk atresia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital commissural pits Associated morphology False kongenit anomali Inferred relationship Some 1
    Duane syndrome with vertical deviation (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    andre specificerede øreanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Keratolysis exfoliativa Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of tongue Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Associated morphology False kongenit anomali Inferred relationship Some
    Coronary sinus defect in left atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of alisphenoid bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital fecaliths causing obstruction (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden kongenit binyreanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Midline cervical cleft (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital thickening of tarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida med hydrocephalus – lukket, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Separation of tarsal coalition Direct morphology False kongenit anomali Inferred relationship Some 1
    Hyperplastic tooth follicle Associated morphology False kongenit anomali Inferred relationship Some 3
    uterus bicornis, barn født, med post partum-komplikation Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of liver and/or biliary tract (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Bilaterale atrier Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified congenital malformations of peripheral vascular system Associated morphology False kongenit anomali Inferred relationship Some 1
    Atresia of urethra Associated morphology False kongenit anomali Inferred relationship Some 1
    Cutis laxa, autosomal dominant Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital retrognathism Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of thorax Associated morphology False kongenit anomali Inferred relationship Some 1
    Pancreasanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    [X]Other specified congenital malformations of respiratory system Associated morphology False kongenit anomali Inferred relationship Some 1
    Thoracic spina bifida with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital pulmonary venous atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret kongenit hydrocefalus Associated morphology False kongenit anomali Inferred relationship Some 2
    A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed. Associated morphology False kongenit anomali Inferred relationship Some 1
    Harlequin fetus Associated morphology False kongenit anomali Inferred relationship Some 1
    Whole chromosome monosomy - meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of cardiovascular structure of trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hydrocalicosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus acollis Associated morphology False kongenit anomali Inferred relationship Some 1
    12q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Kongenitte kæbedeformiteter Associated morphology False kongenit anomali Inferred relationship Some 1
    Defect of skull ossification Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede cerebrale anomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Pulmonary trunk hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte anomalier af fingre Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False kongenit anomali Inferred relationship Some 1
    Thoracolumbar spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Dentate dysplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    andre anomalier af endokrine glandler Associated morphology False kongenit anomali Inferred relationship Some 1
    åben defekt i rygsøjlen med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of myocardium Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre anomalier i lever og galdesystem, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of epididymis Associated morphology False kongenit anomali Inferred relationship Some 2
    Olive dysplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital systemic venous atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    Splenoportal vascular anomaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Dysgenesis of the brainstem Associated morphology False kongenit anomali Inferred relationship Some 1
    Prune belly syndrome Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital abnormality of lacrimal drainage system (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypoplasia of nipple Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of endocrine testis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Vascular neurocutaneous syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre specificerede fordøjelsessystemanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    anomalier af tuba auditoria, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Embedded tooth Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypoplasia of lower limb Associated morphology False kongenit anomali Inferred relationship Some 2
    Balanced coronary system Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified congenital malformations of urinary system Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit iktyose, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypoplasia of brain gyri Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital thickening of fibula Associated morphology False kongenit anomali Inferred relationship Some 1
    kraniel dysostose, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali af glandula parathyroidea, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of lung Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformation of bony thorax, unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome XXXXY Associated morphology False kongenit anomali Inferred relationship Some
    Andre uterusanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital accessory skin tag Associated morphology False kongenit anomali Inferred relationship Some 2
    anden underudvikling af arm eller ben Associated morphology False kongenit anomali Inferred relationship Some 1
    tilstand forårsaget af anomali af uspecificeret kromosom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Posterior embryotoxon (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of tongue Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of mandible Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital leukonychia Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte hjerteanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital thickening of ilium Associated morphology False kongenit anomali Inferred relationship Some 1
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False kongenit anomali Inferred relationship Some 1
    Duane's syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel monosomi 12p-syndrom Associated morphology False kongenit anomali Inferred relationship Some
    Glycogenosis with glucoaminophosphaturia Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit postural rygskævhed, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret bruskanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Major partial trisomy Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of gastrointestinal tract (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Bipartite ossification of interparietal bone Associated morphology False kongenit anomali Inferred relationship Some 1

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