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107656002: Congenital anomaly (morphologic abnormality)


    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hearing disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital deafness Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 20 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of epidermal appendages Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Syringomyelia and syringobulbia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spinal hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical spinal hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Thoracic hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Thoracic spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Thoracic meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical myelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Thoracic myelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar myelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cervical myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Thoracic myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Thoracic myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Hydromeningocele - cranial Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of cerebrum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Agenesis of cerebrum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of hypothalamus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of cerebellum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aplasia of cerebellum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cebocephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Defective development of the cauda equina Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Middle ear anomaly, excluding ossicles Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ear osseous meatus atresia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ear osseous meatus stricture Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Accessory tragus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft external sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft internal sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Preauricular sinus and fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Subdiaphragmatic total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Antimongolism syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletion of long arm of chromosome 13 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Balanced autosomal translocation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 6 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 7 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 8 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 9 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 10 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 11 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 12 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 22 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome trisomy, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome trisomy, mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial trisomy syndromes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Turner's phenotype, karyotype normal Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    XY, female phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter's syndrome, XXYY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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