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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
    Congenital anomaly of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome XXXY Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome XXXXY 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 1
    Klinefelter's syndrome, XXY Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringomyelia or syringobulbia NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 4
    Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other specified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    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 without mention of hydrocephalus, site unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without mention of hydrocephalus, site unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spinal hydromeningocele, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spinal hydromeningocele NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spinal meningocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spinal meningocele NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Meningomyelocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Some 3
    Meningomyelocele NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelocele 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 2
    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 3
    Unspecified spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida without hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 2
    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 3
    Spina bifida NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other nervous system congenital anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of cerebrum NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of cerebellum NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other reduction deformity of brain NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified brain anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cerebral cyst NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified brain anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spinal cord anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    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 specified nervous system anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of nerve, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified nervous system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of nerve NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified nervous system anomaly of brain, cord and nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified nervous system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nervous system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Middle ear anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of ossicles NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inner ear anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified ear anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Eustachian tube anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified ear anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ear anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft vestige, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft vestige NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular sinus or fistula NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other branchial cleft anomalies 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
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly 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
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of neck NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coarctation of aorta NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Total anomalous pulmonary venous return NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Arthrogryposis, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other arthrogryposis syndromes Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other deletion of part of a chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletions with other complex rearrangements Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome monosomy, mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other deletions from the autosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Monosomies and deletions from the autosomes NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other condition due to autosomal anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other trisomy C syndromes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified whole chromosome trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomies of autosomes NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy of autosomes NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced rearrangement or structural marker NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome NOS 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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