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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
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 3
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False Congenital anomaly Inferred relationship Some 1
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida of lumbar region Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida of lumbar region Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital blindness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blindness Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital strabismus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital strabismus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Acrania Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    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 1
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    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 3
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida without mention of hydrocephalus 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 1
    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 1
    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

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