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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hearing disorder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deafness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 20 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringomyelia and syringobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spinal hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical myelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic myelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar myelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Associated morphology False Congenital anomaly Inferred relationship Some 2
    A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hydromeningocele - cranial Associated morphology False Congenital anomaly Inferred relationship Some 4
    Reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of cerebrum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of cerebrum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of hypothalamus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cebocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Defective development of the cauda equina Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Middle ear anomaly, excluding ossicles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear osseous meatus atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear osseous meatus stricture Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tragus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft external sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular sinus and fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Subdiaphragmatic total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Some 3
    Antimongolism syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced autosomal translocation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 6 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 7 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 8 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 9 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 10 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 11 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 12 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 22 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy syndromes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, karyotype normal Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Congenital anomaly Inferred relationship Some 1
    XY, female phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome, XXYY Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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