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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
    Ebstein's anomaly with atrial septal defect Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital myopathy with uniform fiber type Associated morphology False kongenit anomali Inferred relationship Some 1
    Ekstra markørkromosom Associated morphology False kongenit anomali Inferred relationship Some
    Biliær malformation associeret med renal tubulær insufficiens Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital mesocolic hernia Associated morphology False kongenit anomali Inferred relationship Some 2
    Laminar heterotopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosis hystrix Associated morphology False kongenit anomali Inferred relationship Some 1
    Thumb in palm deformity Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of vulva Associated morphology False kongenit anomali Inferred relationship Some 1
    ekstra kromosom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Cerebellar aplasi Associated morphology False kongenit anomali Inferred relationship Some 2
    Epoophoron Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of lacrimal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Neonatal cutis laxa with marfanoid phenotype (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte nervesystemsanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit tommel-springfinger Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypomyelinating neuropathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Chromosomal alterations of group A Associated morphology False kongenit anomali Inferred relationship Some
    Anomaly of chromosome pair 11 Associated morphology False kongenit anomali Inferred relationship Some
    [X]Other congenital malformations of vagina Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, variant form Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte anomalier af pelvis, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit underudvikling af fod Associated morphology False kongenit anomali Inferred relationship Some 1
    X-linked ichthyosis with steryl-sulphatase deficiency Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalous portal vein termination Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital polyneuropathy Associated morphology False kongenit anomali Inferred relationship Some 1
    18q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Myopathy with tubular aggregates Associated morphology False kongenit anomali Inferred relationship Some 1
    præaurikulær sinus, fordybning eller fistel Associated morphology False kongenit anomali Inferred relationship Some 1
    Cutis laxa, recessive, type II Associated morphology False kongenit anomali Inferred relationship Some 1
    andre underekstremitetsanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of tarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Vesicular appendix of ovary Associated morphology False kongenit anomali Inferred relationship Some 1
    Single outlet ventriculoarterial connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Chimera 46, XX; 46, XY Associated morphology False kongenit anomali Inferred relationship Some
    Myelocystocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit underudvikling af underekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False kongenit anomali Inferred relationship Some 1
    deletion af kromosom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    D - transposition of the great vessels (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of lacrimal system (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of ilium Associated morphology False kongenit anomali Inferred relationship Some 1
    Webbed penis Associated morphology False kongenit anomali Inferred relationship Some 1
    andre anomalier i larynx, trachea og bronkie Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    anden specificeret anden korrektion af kongenit deformitet i fod Direct morphology False kongenit anomali Inferred relationship Some 1
    Floppy infant syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal deletion - mosaicism Associated morphology False kongenit anomali Inferred relationship Some
    Dentin dysplasia, type II Associated morphology False kongenit anomali Inferred relationship Some 2
    Atrioventricular septal defect - ventricular component Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of anterior chamber of eye Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Associated morphology False kongenit anomali Inferred relationship Some
    Commissural fusion of pulmonary valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Diphallus Associated morphology False kongenit anomali Inferred relationship Some 1
    anden anomali af underekstremiter og bækkenring, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    mosaicisme, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Myopathy with cytoplasmic inclusions Associated morphology False kongenit anomali Inferred relationship Some 1
    Double outlet from ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    Accessory adrenal cortex Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital vertical mandibular hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Atrioventricular septal defect - ventricular component under superior bridging leaflet Associated morphology False kongenit anomali Inferred relationship Some 1
    anden kønskromosomanomali Associated morphology False kongenit anomali Inferred relationship Some
    8p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    andre anomalier af larynx, trachea eller bronkie, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    22q partial trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of paw Associated morphology False kongenit anomali Inferred relationship Some 1
    Right sided atrium connecting to right ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of larynx Associated morphology False kongenit anomali Inferred relationship Some 1
    Neuronal heterotopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Imperforate hymen Associated morphology False kongenit anomali Inferred relationship Some 2
    Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False kongenit anomali Inferred relationship Some
    Myopathy with abnormality of histochemical fibre type Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal plantar creases Associated morphology False kongenit anomali Inferred relationship Some 1
    synsnervepapilhul Associated morphology False kongenit anomali Inferred relationship Some 1
    Acyanotic congenital heart disease Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified congenital musculoskeletal deformities Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformations of the nervous system Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of parathyroid glands Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali af uspecificeret arm eller ben, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre specificerede anomalier af uspecificeret arm eller ben Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent left sided atrioventricular connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Tongue tie Associated morphology False kongenit anomali Inferred relationship Some 1
    Oral lymphangioma Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 8 Associated morphology False kongenit anomali Inferred relationship Some
    Constriction ring syndrome of lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of vulva Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalier af cerebrovaskulære system Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnorm infundibulummorfologi Associated morphology False kongenit anomali Inferred relationship Some 1
    imperforeret vagina Associated morphology False kongenit anomali Inferred relationship Some 1
    Type 2 lissencephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    obstruktiv hjerteanomali, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of carpal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    myksomatose i hjerteklap Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other obstructive defects of renal pelvis and ureter Associated morphology False kongenit anomali Inferred relationship Some 1
    anden anomali af trachea Associated morphology False kongenit anomali Inferred relationship Some 2
    Anterior leaflet of mitral valve attached to septum Associated morphology False kongenit anomali Inferred relationship Some 1
    Inherited disorder of keratinization Associated morphology False kongenit anomali Inferred relationship Some 1
    Duane's syndrome, type 3 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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