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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
    andre tungeanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Deletion with complex rearrangement Associated morphology False kongenit anomali Inferred relationship Some
    Autosomal recessive familial woolly hair Associated morphology False kongenit anomali Inferred relationship Some 1
    Complete monosomy 21 (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of large intestine Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of hand Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital portal-systemic shunt Associated morphology False kongenit anomali Inferred relationship Some 1
    Lithopedion Associated morphology False kongenit anomali Inferred relationship Some 1
    Rud's syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital hallux varus Direct morphology False kongenit anomali Inferred relationship Some 1
    Hypoplasia of eyelid Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of urinary bladder (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 10 Associated morphology False kongenit anomali Inferred relationship Some
    Ankyloblepharon filiforme adnatum (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    6p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    akrocefalopolysyndaktyli Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of sternocleidomastoid muscle Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden hydrocephalus – lukket, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    ufuldstændig ossifikation af cokcygealhvirvelbue Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of mirror hand Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital duodenal obstruction due to annular pancreas (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel monosomi 15q-syndrom Associated morphology False kongenit anomali Inferred relationship Some
    foetus compressus, barn født Associated morphology False kongenit anomali Inferred relationship Some 1
    Dental midlines coincident and incorrect Associated morphology False kongenit anomali Inferred relationship Some 1
    Dentin dysplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Lack of ossification of forepaw phalanx Associated morphology False kongenit anomali Inferred relationship Some 1
    Defect of vertebral segmentation Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosiform erythroderma Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali af arterie Associated morphology False kongenit anomali Inferred relationship Some 1
    Focal nodular hypoplasia of liver (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Circumscribed palmoplantar keratoderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital bronchiectasis Associated morphology False kongenit anomali Inferred relationship Some 2
    [X]Other congenital malformations of cardiac septa Associated morphology False kongenit anomali Inferred relationship Some 1
    Sotos' syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of iris Associated morphology False kongenit anomali Inferred relationship Some 1
    Right hypoplastic heart syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal left ventricular muscle band Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of skull shape Associated morphology False kongenit anomali Inferred relationship Some 1
    Chromosomal alterations of group D Associated morphology False kongenit anomali Inferred relationship Some
    Kongenit postural rygskævhed Associated morphology False kongenit anomali Inferred relationship Some 1
    andre læbeanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Left ventricular outflow tract atresia (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden specificeret ureteranomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    veneatresi, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Anorectal anomaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Fetal postural deformity Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret kongenit anomali af tårekanaler Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital alveolar hypoplasia of mandible Associated morphology False kongenit anomali Inferred relationship Some 2
    [X]Other congenital malformations of great arteries Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosis hystrix gravior, Rheydts type Associated morphology False kongenit anomali Inferred relationship Some 1
    Sene sekundære abnormiteter i centralnervesystemet Associated morphology False kongenit anomali Inferred relationship Some 1
    Mesenteric cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region. Associated morphology False kongenit anomali Inferred relationship Some
    foetus compressus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Chromosomal alterations of group C and X Associated morphology False kongenit anomali Inferred relationship Some
    [X]Other specified congenital malformations of the heart Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital extension contracture of the knee Associated morphology False kongenit anomali Inferred relationship Some 1
    Multiple supernumerary eye muscles Associated morphology False kongenit anomali Inferred relationship Some 1
    Horizontal orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Muscle eye brain disease Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit komplet hjerteblok Associated morphology False kongenit anomali Inferred relationship Some 1
    Left ventricular outflow tract obstruction Associated morphology False kongenit anomali Inferred relationship Some 1
    Encefalooftalmisk dysplasi Associated morphology False kongenit anomali Inferred relationship Some 1
    Hemimyelocele Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali af ydre kvindelige kønsorganer Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent tricuspid leaflet Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre specificerede ureteranomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden specificeret muskel-, sene- og fascieanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of optic disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosis hystrix med døvhed Associated morphology False kongenit anomali Inferred relationship Some 1
    Straddling tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of arch of cervical vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Cordate pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit hjerteklapinsufficiens, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    X-bundet recessiv iktyose Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of hindpaw phalanx Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nasal sinuses Associated morphology False kongenit anomali Inferred relationship Some 1
    Localised bullous ichthyosiform erythroderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of thumb (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret abdominalvæganomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Nemaline myopathy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Ebstein-like malformation of mitral valve (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of aorta Associated morphology False kongenit anomali Inferred relationship Some 1
    Bilateral craniofacial microsomia Associated morphology False kongenit anomali Inferred relationship Some 1
    ektopisk thyroideavæv Associated morphology False kongenit anomali Inferred relationship Some 1
    Manglende eller hypoplasi af umbilikalarterie, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Repair of cleft hand Direct morphology False kongenit anomali Inferred relationship Some 1
    kongenitte øjenanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal recessive ichthyosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit ledstivhed med myopati Associated morphology False kongenit anomali Inferred relationship Some 1
    11q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    andre specificerede væksthæmningssyndromer Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of lacrimal apparatus Associated morphology False kongenit anomali Inferred relationship Some 1
    Neurenterisk cyste Associated morphology False kongenit anomali Inferred relationship Some 1
    Ductus arteriosus from retro-oesophageal aortic diverticulum Associated morphology False kongenit anomali Inferred relationship Some 2
    Sinus of branchial cleft (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 13 Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosis hystrix Bäfverstedt type (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False kongenit anomali Inferred relationship Some
    Morning glory disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 4 Associated morphology False kongenit anomali Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

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