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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive 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 abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    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 1
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical 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 1
    Thoracic 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
    Lumbar 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
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    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
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord hypoplasia 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, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Fissured spine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fissured spine Associated morphology False Congenital anomaly Inferred relationship Some 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of nervous system of head/neck Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nervous system of head/neck Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spina bifida with hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 4
    Other specified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spina bifida without mention of hydrocephalus, site unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus, site unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Unspecified spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelocystocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelocystocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelocystocele NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelocystocele NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Unspecified spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Unspecified spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other specified spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Some 4
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary neurocutaneous angiomata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary neurocutaneous angiomata Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tilted optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tilted optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myelinated nerve fibres of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelinated nerve fibres of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Optic disc vascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Optic disc vascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 3
    Sectorial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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