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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 hypoplasia of nasal turbinate Associated morphology False Congenital anomaly Inferred relationship Some 2
    Klinefelter syndrome, male with 46,XX karyotype Associated morphology False Congenital anomaly Inferred relationship Some
    Incomplete ossification of mandible Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital clubbing Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified sex chromosome abnormalities, male phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelocystocele NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital stenosis of vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectopic gastric mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fetal trimethadione syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of talus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cerebral meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Sex chromosome anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of nose Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other deletions from the autosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary follicular keratoses Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dyke-Davidoff-Masson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary digit Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other sex chromosome abnormality NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Persistent hyaloid artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    5p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Atrioventricular septal defect - isolated ventricular component Associated morphology False Congenital anomaly Inferred relationship Some 2
    Beaded hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Alstrom syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Obstructive heart anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Scaphocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ischium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Schizencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital overgrowth of whole lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of midfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of minor congenital deformity of foot NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Multiple congenital cerebral cysts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncal valve regurgitation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of unspecified limb NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of larynx or trachea NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Subpulmonary infundibulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital musculoskeletal anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fold and cyst of posterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Discordant atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinobulbar atrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aortic arch anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of centrum of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial absence of alimentary tract NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of bladder and urethra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Solid rudimentary uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of thyroglossal duct NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypospadias or epispadias NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Non-fluoride enamel opacities Associated morphology False Congenital anomaly Inferred relationship Some 1
    Middle ear anomaly, excluding ossicles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of ilium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Group chromosomal alteration Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of upper respiratory system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isolation of brachiocephalic trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of face Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of digestive tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deventer's pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified circulatory system anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    46, XX true hermaphrodite Associated morphology False Congenital anomaly Inferred relationship Some
    Capitate-hamate synostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital rhabdomyoma of heart Associated morphology False Congenital anomaly Inferred relationship Some 1
    Late congenital syphilitic polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital heart block Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital buried penis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear osseous meatus atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anosmia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal lung lobation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dentin dysplasia, type I Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified digestive system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ebstein's anomaly with atrial septal defect Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital myopathy with uniform fibre type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Extra marker chromosomes Associated morphology False Congenital anomaly Inferred relationship Some
    Biliary malformation associated with renal tubular insufficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital mesocolic hernia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Laminar heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis hystrix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thumb in palm deformity Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of vulva Associated morphology False Congenital anomaly Inferred relationship Some 1
    Additional chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Cerebellar aplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of lacrimal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neonatal cutis laxa with marfanoid phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Port-wine stain associated with spinal dysraphism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other nervous system congenital anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital trigger thumb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypomyelinating neuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group A Associated morphology False Congenital anomaly Inferred relationship Some
    Anomaly of chromosome pair 11 Associated morphology False Congenital anomaly Inferred relationship Some
    [X]Other congenital malformations of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, variant form Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of pelvis NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital undergrowth of foot 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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