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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
    Ebstein's anomaly with atrial septal defect Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital myopathy with uniform fiber 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 (disorder) 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
    X-linked ichthyosis with steryl-sulfatase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous portal vein termination Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    18q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Myopathy with tubular aggregates Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular sinus, pit or fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, recessive, type II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other lower limb anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vesicular appendix of ovary Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single outlet ventriculoarterial connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chimera 46, XX; 46, XY Associated morphology False Congenital anomaly Inferred relationship Some
    Myelocystocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    D - transposition of the great vessels (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of lacrimal system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ilium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Webbed penis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomalies of larynx, trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of pancreas (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified other correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Floppy infant syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal deletion - mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Dentin dysplasia, type II Associated morphology False Congenital anomaly Inferred relationship Some 2
    Atrioventricular septal defect - ventricular component Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of anterior chamber of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Associated morphology False Congenital anomaly Inferred relationship Some
    Commissural fusion of pulmonary valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diphallus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other lower limb and pelvic girdle anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Myopathy with cytoplasmic inclusions (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double outlet from ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory adrenal cortex Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vertical mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atrioventricular septal defect - ventricular component under superior bridging leaflet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Some
    8p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Other anomalies of larynx, trachea or bronchus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    22q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of paw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right sided atrium connecting to right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of larynx (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuronal heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate hymen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Myopathy with abnormality of histochemical fiber type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal plantar creases Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acyanotic congenital heart disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital musculoskeletal deformities Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of the nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of parathyroid glands Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of unspecified limb NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of unspecified limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent left sided atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 8 Associated morphology False Congenital anomaly Inferred relationship Some
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vulva Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cerebrovascular system anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal infundibular morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Type 2 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Obstructive heart anomaly NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of carpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myxomatosis of cardiac valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other obstructive defects of renal pelvis and ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of trachea Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anterior leaflet of mitral valve attached to septum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited disorder of keratinization Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 3 Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

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    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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