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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
    Specified anomaly of sclera NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lumbar vertebra NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Erythrokeratoderma progressiva of Gottron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Progressive palmoplantar keratoderma of Greither Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectopic bone and cartilage in lung Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of upper alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Structural anomaly of the cochlea and vestibular labyrinth Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other mis-shapen ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of radius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced translocation and insertion in normal individual Associated morphology False Congenital anomaly Inferred relationship Some
    Mixed congenital myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Caudal dysplasia sequence Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified whole chromosome trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of neck NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of uterus complicating postpartum care - baby delivered during previous episode of care Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse arrest metacarpal other Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bipartite ossification of centrum of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Monosomies and deletions from the autosomes NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital chest wall deformity NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of lower limb Direct morphology False Congenital anomaly Inferred relationship Some 1
    Situs inversus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital displaced kidney 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 1
    Bilateral isomeric atria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous cardiac muscle bands Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of gallbladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced rearrangement and structural marker Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of the peripheral nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Impervious ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of interrupted aortic arch Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of skull and face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital retinal changes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Small left colon syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of neck Associated morphology False Congenital anomaly Inferred relationship Some 1
    Situs inversus with laevocardia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary correction of clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Hirschsprung's disease and allied congenital conditions NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    14q partial proximal trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of vas deferens Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pulmonary veins Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undergrowth of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cebocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malposition of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aprosencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Heyman operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Bicornuate uterus in pregnancy, childbirth or puerperium NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Septoparietal trabeculations Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of great veins Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse arrest carpal level Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dysmotility of small intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete trisomy 16 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Imperforate lacrimal punctum Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of musculoskeletal system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Albinotic fundus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of arterial duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other condition due to autosomal anomaly Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of middle ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of carpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other mouth anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Endocardial fibroelastosis of right atrium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Mosaicism - lines with various numbers of X chromosomes Associated morphology False Congenital anomaly Inferred relationship Some
    Secondary dental arch length loss Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of back Associated morphology False Congenital anomaly Inferred relationship Some 1
    18p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Right atrial appendage absent Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anterolateral muscle band Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Aneuploidy NEC Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital functional disorders of the small intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic tissue in lung Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified hair anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of arch of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of centrum of caudal vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital ureteric valves Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar keratoderma with leucoplakia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other mouth anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fissured spine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epiblepharon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of anterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vestigial gastrointestinal remnant Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified bladder and urethral anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 1 Associated morphology False Congenital anomaly Inferred relationship Some
    Other specified correction of congenital deformity of shoulder or upper arm Direct morphology False Congenital anomaly Inferred relationship Some 1
    Other specified renal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fusion of labia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of short arm of chromosome 18 Associated morphology False Congenital anomaly Inferred relationship Some
    [X]Congenital malformations of cardiac chambers and connections Associated morphology False Congenital anomaly Inferred relationship Some 1
    Funnel-shaped pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vascular anomaly of umbilical cord 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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