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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
    Klinefelter's syndrome, XXYY Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome, XY/XXY mosaic Associated morphology False kongenit anomali Inferred relationship Some 1
    Additional sex chromosome Associated morphology False kongenit anomali Inferred relationship Some 1
    Sex chromosome mosaicism Associated morphology False kongenit anomali Inferred relationship Some 1
    Mosaic XO/XY Associated morphology False kongenit anomali Inferred relationship Some 1
    Mosaic XO/XX Associated morphology False kongenit anomali Inferred relationship Some 1
    Mosaic XY/XXY Associated morphology False kongenit anomali Inferred relationship Some 1
    Mosaic including XXXXY Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of chromosome Associated morphology False kongenit anomali Inferred relationship Some 1
    Acephalothorax Associated morphology False kongenit anomali Inferred relationship Some 1
    præaurikulær sinus, fordybning eller fistel Associated morphology False kongenit anomali Inferred relationship Some 1
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    åben defekt i rygsøjlen Associated morphology False kongenit anomali Inferred relationship Some 2
    åben defekt i rygsøjlen Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelocele with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False kongenit anomali Inferred relationship Some 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False kongenit anomali Inferred relationship Some 2
    Arachnoidea-/ependymacyste Associated morphology False kongenit anomali Inferred relationship Some 2
    Sirenomeli Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypoplasia of brain gyri Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital stricture of osseous meatus Associated morphology False kongenit anomali Inferred relationship Some 1
    Brankialfure Associated morphology False kongenit anomali Inferred relationship Some 1
    Misdannelse af struben Associated morphology False kongenit anomali Inferred relationship Some 1
    Absence of sex chromosome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Pseudotrisomy 18 Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal deletion - mosaicism Associated morphology False kongenit anomali Inferred relationship Some 1
    Turner's phenotype, partial X deletion karyotype Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Ear auricle and external auditory canal absent Associated morphology False kongenit anomali Inferred relationship Some 1
    Branchial cleft sinus and fistula Associated morphology False kongenit anomali Inferred relationship Some 2
    Deletion of long arm of chromosome 18 Associated morphology False kongenit anomali Inferred relationship Some 1
    Deletion of short arm of chromosome 18 Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of ear Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome XXXY Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome XXXXY Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nervous system of head/neck Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome, XXY (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Syringomyelia et syringobulbia, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    iniencefali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    iniencefali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    iniencefali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 4
    Uspecificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Uspecificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida med hydrocephalus, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida med hydrocephalus, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Anden specificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Anden specificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Anden spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida med hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida uden angivelse af hydrocephalus, lokalisation uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida uden angivelse af hydrocephalus, lokalisation uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Uspecificeret spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Uspecificeret spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spinalt hydromeningocele, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spinalt hydromeningocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spinalt meningocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 3
    Spinalt meningocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    myelomeningocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 3
    myelomeningocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelocystocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 1
    Myelocystocele uden specificeret lokalisation Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelocystocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Myelocystocele, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Uspecificeret spina bifida uden hydrocephalus – åben Associated morphology False kongenit anomali Inferred relationship Some 3
    Uspecificeret spina bifida uden hydrocephalus – åben Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida uden hydrocephalus – åben, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida uden hydrocephalus – åben, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Uspecificeret spina bifida uden hydrocephalus – lukket Associated morphology False kongenit anomali Inferred relationship Some 2
    Uspecificeret spina bifida uden hydrocephalus – lukket Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    andre kongenitte nervesystemsanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebral agenesi, hjernedel ikke specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebral aplasi, hjernedel ikke specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebral hypoplasi, hjernedel ikke specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebral anomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebellar anomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    andre specificerede reduktionsdeformiteter af hjernen Associated morphology False kongenit anomali Inferred relationship Some 1
    anden reduktionsdeformitet af hjernen, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede cerebrale anomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit cerebral cyste, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede cerebrale anomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede rygmarvsanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Andre specificerede anomalier af nervesystemet Associated morphology False kongenit anomali Inferred relationship Some 1
    agenesi af nerve, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre specificerede anomalier af nervesystemet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    agenesi af nerve, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    uspecificeret nervesystemanomali i hjernen, rygmarven og nervesystemet Associated morphology False kongenit anomali Inferred relationship Some 1
    uspecificeret nervesystemanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    nervesystemanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    mellemøreanomali, ikke klassificeret andetsteds, ikke nærmere specificeret 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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