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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
    Duane's syndrome, type 3 Associated morphology False kongenit anomali Inferred relationship Some 1
    truncus arteriosus-klapdysplasi Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit komplet underudvikling af underekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    Left sided atrium connecting to left ventricle (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other balanced rearrangements and structural markers Associated morphology False kongenit anomali Inferred relationship Some 1
    Myopathy with type I hypotrophy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Fused mitral papillary muscles (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Duct of epoophoron Associated morphology False kongenit anomali Inferred relationship Some 1
    Accessory tissue on truncal valve cusp Associated morphology False kongenit anomali Inferred relationship Some 1
    Single umbilical artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Distal interphalangeal joint symphalangism Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet to ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other atresia and stenosis of urethra and bladder neck Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent atrioventricular connection with straddling valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nasal turbinate Associated morphology False kongenit anomali Inferred relationship Some 1
    20q partial trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Nagele's pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret primær korrektion af kongenit deformitet i fod Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital curly toes Associated morphology False kongenit anomali Inferred relationship Some 1
    Precocious exfoliation of teeth due to root resorption following trauma (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    duplikation af fordøjelsessystem, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified congenital malformations of kidney Associated morphology False kongenit anomali Inferred relationship Some 1
    Primary vesicoureteric reflux Associated morphology False kongenit anomali Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of azygos vein Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication with other complex rearrangement Associated morphology False kongenit anomali Inferred relationship Some
    Duodenal web Associated morphology False kongenit anomali Inferred relationship Some 1
    Female infertility due to structural congenital anomaly of cervix (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Laryngeal cleft type IV Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of centrum of lumbar vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Translocation Down syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    anomali af thyroidea, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Laryngeal cleft type II Associated morphology False kongenit anomali Inferred relationship Some 1
    Beaked pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Brockman operation Direct morphology False kongenit anomali Inferred relationship Some 1
    plettet tand, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of femur Associated morphology False kongenit anomali Inferred relationship Some 1
    Minor partial trisomy Associated morphology False kongenit anomali Inferred relationship Some
    Generalized macrodontia Associated morphology False kongenit anomali Inferred relationship Some 1
    Constriction ring of lower limb with lymphedema Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Localized congenital cutis laxa (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida of cervical region Associated morphology False kongenit anomali Inferred relationship Some 2
    manglende fordøjelsessystem, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Straddling mitral valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital disorder of gallbladder and biliary tract Associated morphology False kongenit anomali Inferred relationship Some 1
    L - transposition of the great vessels (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    anomalier af thyroidea, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Macrodontia Associated morphology False kongenit anomali Inferred relationship Some 1
    Laryngeal cleft type III Associated morphology False kongenit anomali Inferred relationship Some 1
    Mottling of enamel Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte folder i det posteriore segment Associated morphology False kongenit anomali Inferred relationship Some 1
    4p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Nasal glial heterotopia Associated morphology False kongenit anomali Inferred relationship Some 2
    andre specificerede hjerteanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital overgrowth of foot Associated morphology False kongenit anomali Inferred relationship Some 1
    uterus bicornis med indvirkning på obstetrisk behandling og pleje Associated morphology False kongenit anomali Inferred relationship Some 1
    anden overekstremitets- og skulderanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit amputation af uspecificeret arm eller ben Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital deformities of skull, face and jaw Associated morphology False kongenit anomali Inferred relationship Some 1
    Hyperplasia of islet alpha cells with glucagon excess Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital deformity of knee joint Associated morphology False kongenit anomali Inferred relationship Some 1
    Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Lissencephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of forefoot Direct morphology False kongenit anomali Inferred relationship Some 1
    Precocious exfoliation of teeth due to idiopathic root resorption (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Infantile pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret respirationssystemanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    kromosomale anomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Congenital structural abnormality of cornea Associated morphology False kongenit anomali Inferred relationship Some 1
    Pataus syndrom, mosaik Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel trisomi-syndrom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of exoccipital bone Associated morphology False kongenit anomali Inferred relationship Some 1
    aortaanomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden hydrocephalus – åben, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    respirationssystemanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Single congenital cerebral cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Benign autosomal dominant osteopetrose Associated morphology False kongenit anomali Inferred relationship Some 1
    Malformation of urachus Associated morphology False kongenit anomali Inferred relationship Some 1
    overekstremitetsanomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of cervical vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of obstetric palsy Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of cardiovascular system Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital splenorenal shunt Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali i kranie- eller ansigtsknogle, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    trisomier af autosomer, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some
    Congenital extrahepatic portal-systemic shunt Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalies of great veins Associated morphology False kongenit anomali Inferred relationship Some 1
    Deep vein aplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Atresia of larynx and trachea Associated morphology False kongenit anomali Inferred relationship Some 1
    Partial tetrasomy of chromosome 9 (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Klinefelters syndrom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    dysgenese af corpus callosum Associated morphology False kongenit anomali Inferred relationship Some 1
    22q partial monosomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    uterus bicornis, barn født Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital synostosis of lower limb bones Associated morphology False kongenit anomali Inferred relationship Some 1
    Individual with autosomal fragile site Associated morphology False kongenit anomali Inferred relationship Some
    Andre specificerede respirationssystemanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden anomali af rygsøjlen Associated morphology False kongenit anomali Inferred relationship Some 1
    Ulnar dimelia Associated morphology False kongenit anomali Inferred relationship Some 2
    lungeanomali, uspecificeret 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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