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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
    27811000052119 kongenital anomali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenital anomali Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    kongenital anomali Is a utvecklingsabnormitet false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hearing disorder Associated morphology False kongenital anomali Inferred relationship Some 1
    Congenital deafness Associated morphology False kongenital anomali Inferred relationship Some 1
    Anomaly of chromosome pair 20 Associated morphology False kongenital anomali Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False kongenital anomali Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False kongenital anomali Inferred relationship Some 1
    Syringomyelia and syringobulbia Associated morphology False kongenital anomali Inferred relationship Some 1
    Acrania Associated morphology False kongenital anomali Inferred relationship Some 1
    Acrania Associated morphology False kongenital anomali Inferred relationship Some 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False kongenital anomali Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 2
    Spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 1
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 4
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False kongenital anomali Inferred relationship Some 2
    spinalt hydromeningocele Associated morphology False kongenital anomali Inferred relationship Some 3
    cervikalt spinalt hydromeningocele Associated morphology False kongenital anomali Inferred relationship Some 3
    cervikalt hydromyelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    torakal hydromyelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    lumbalt hydromyelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    spinalt meningocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Cervical spinal meningocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Thoracic spinal meningocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar spinal meningocele (disorder) Associated morphology False kongenital anomali Inferred relationship Some 3
    Cervical meningomyelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Thoracic meningomyelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar meningomyelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Cervical myelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Thoracic myelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar myelocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Myelocystocele Associated morphology False kongenital anomali Inferred relationship Some 2
    Myelocystocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Cervical myelocystocele (disorder) Associated morphology False kongenital anomali Inferred relationship Some 2
    Cervical myelocystocele (disorder) Associated morphology False kongenital anomali Inferred relationship Some 3
    Thoracic myelocystocele Associated morphology False kongenital anomali Inferred relationship Some 1
    Thoracic myelocystocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False kongenital anomali Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - open Associated morphology False kongenital anomali Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False kongenital anomali Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False kongenital anomali Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False kongenital anomali Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False kongenital anomali Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open (disorder) Associated morphology False kongenital anomali Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - open (disorder) Associated morphology False kongenital anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - closed (disorder) Associated morphology False kongenital anomali Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - closed (disorder) Associated morphology False kongenital anomali Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False kongenital anomali Inferred relationship Some 3
    kranialt hydromeningocele Associated morphology False kongenital anomali Inferred relationship Some 4
    reduktionsdeformiteter i hjärnan Associated morphology False kongenital anomali Inferred relationship Some 1
    missbildningar i storhjärnan Associated morphology False kongenital anomali Inferred relationship Some 1
    Agenesis of cerebrum Associated morphology False kongenital anomali Inferred relationship Some 1
    Anomalies of hypothalamus Associated morphology False kongenital anomali Inferred relationship Some 1
    Anomalies of cerebellum Associated morphology False kongenital anomali Inferred relationship Some 1
    Aplasia of cerebellum Associated morphology False kongenital anomali Inferred relationship Some 1
    Cebocephaly Associated morphology False kongenital anomali Inferred relationship Some 1
    bristande utveckling av cauda equina Associated morphology False kongenital anomali Inferred relationship Some 2
    Spinal cord hypoplasia Associated morphology False kongenital anomali Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False kongenital anomali Inferred relationship Some 2
    anomali i mellanöra förutom hörselben Associated morphology False kongenital anomali Inferred relationship Some 1
    artresi av bengång i öra Associated morphology False kongenital anomali Inferred relationship Some 1
    striktur av bengång i öra Associated morphology False kongenital anomali Inferred relationship Some 1
    Accessory tragus Associated morphology False kongenital anomali Inferred relationship Some 1
    gälspringa, cysta eller fistel, preaurikulär sinus Associated morphology False kongenital anomali Inferred relationship Some 2
    gälspringa, cysta eller fistel, preaurikulär sinus Associated morphology False kongenital anomali Inferred relationship Some 1
    Branchial cleft external sinus Associated morphology False kongenital anomali Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False kongenital anomali Inferred relationship Some 1
    preaurikulär sinus och fistel Associated morphology False kongenital anomali Inferred relationship Some 3
    cervikoaurikulär fistel Associated morphology False kongenital anomali Inferred relationship Some 2
    cervikoaurikulär fistel Associated morphology False kongenital anomali Inferred relationship Some 3
    Subdiaphragmatic total anomalous pulmonary venous return Associated morphology False kongenital anomali Inferred relationship Some 1
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False kongenital anomali Inferred relationship Some 3
    Antimongolism syndrome Associated morphology False kongenital anomali Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False kongenital anomali Inferred relationship Some 1
    balanserad autosomal translokation Associated morphology False kongenital anomali Inferred relationship Some 1
    Whole chromosome trisomy syndrome Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 6 Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 7 Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 8 Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 9 Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 10 (disorder) Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 11 Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 12 Associated morphology False kongenital anomali Inferred relationship Some 1
    Trisomy 22 Associated morphology False kongenital anomali Inferred relationship Some 1
    trisomi för hel kromosom, meiotisk icke-disjunktion Associated morphology False kongenital anomali Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False kongenital anomali Inferred relationship Some 1
    Partial trisomy syndromes Associated morphology False kongenital anomali Inferred relationship Some 1
    Turner's phenotype, karyotype normal (disorder) Associated morphology False kongenital anomali Inferred relationship Some 1
    Turners fenotyp, mosaikism 45, X; 46, XX eller 45, X; 46, XY Associated morphology False kongenital anomali Inferred relationship Some 1
    XY, female phenotype Associated morphology False kongenital anomali Inferred relationship Some 1
    Klinefelter's syndrome, XXYY (disorder) Associated morphology False kongenital 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)

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