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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hearing disorder Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital deafness Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 20 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False anomalie congénitale Inferred relationship Some 1
    Syringomyelia and syringobulbia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Acrania Associated morphology False anomalie congénitale Inferred relationship Some 1
    Acrania Associated morphology False anomalie congénitale Inferred relationship Some 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 4
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spinal hydromeningocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical spinal hydromeningocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical hydromyelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic hydromyelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar hydromyelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Spinal meningocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical spinal meningocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic spinal meningocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar spinal meningocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical meningomyelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic meningomyelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar meningomyelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical myelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic myelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar myelocele Associated morphology False anomalie congénitale 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 anomalie congénitale 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 anomalie congénitale Inferred relationship Some 3
    Cervical myelocystocele Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cervical myelocystocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic myelocystocele Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracic myelocystocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    hydroméningocèle crânienne congénitale Associated morphology False anomalie congénitale Inferred relationship Some 4
    Reduction deformities of brain Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalies of cerebrum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Agenesis of cerebrum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalies of hypothalamus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalies of cerebellum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Aplasia of cerebellum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cebocephaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    dysgénésie de la queue de cheval Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spinal cord hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Middle ear anomaly, excluding ossicles Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ear osseous meatus atresia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ear osseous meatus stricture Associated morphology False anomalie congénitale Inferred relationship Some 1
    Accessory tragus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft external sinus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Preauricular sinus and fistula Associated morphology False anomalie congénitale Inferred relationship Some 3
    fistule cervico-auriculaire Associated morphology False anomalie congénitale Inferred relationship Some 2
    fistule cervico-auriculaire Associated morphology False anomalie congénitale Inferred relationship Some 3
    Subdiaphragmatic total anomalous pulmonary venous return Associated morphology False anomalie congénitale Inferred relationship Some 1
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False anomalie congénitale Inferred relationship Some 3
    Antimongolism syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Balanced autosomal translocation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Whole chromosome trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 6 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 7 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 8 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 9 (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 10 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 11 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 12 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 22 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Whole chromosome trisomy, meiotic nondisjunction Associated morphology False anomalie congénitale Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Partial trisomy syndromes Associated morphology False anomalie congénitale Inferred relationship Some 1
    Turner's phenotype, karyotype normal Associated morphology False anomalie congénitale Inferred relationship Some 1
    Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False anomalie congénitale Inferred relationship Some 1
    XY, female phenotype Associated morphology False anomalie congénitale Inferred relationship Some 1
    Klinefelter's syndrome, XXYY Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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