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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Ebstein's anomaly with atrial septal defect Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital myopathy with uniform fiber type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Extra marker chromosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Biliary malformation associated with renal tubular insufficiency Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital mesocolic hernia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Laminar heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ichthyosis hystrix Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Thumb in palm deformity Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of vulva Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Additional chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Cerebellar aplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Epoophoron Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of lacrimal bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Neonatal cutis laxa with marfanoid phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Port-wine stain associated with spinal dysraphism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other nervous system congenital anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital trigger thumb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hypomyelinating neuropathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chromosomal alterations of group A Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Anomaly of chromosome pair 11 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    [X]Other congenital malformations of vagina Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Xeroderma pigmentosum, variant form Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other congenital anomalies of pelvis NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital undergrowth of foot Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    X-linked ichthyosis with steryl-sulfatase deficiency Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalous portal vein termination Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    18q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Myopathy with tubular aggregates Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Preauricular sinus, pit or fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cutis laxa, recessive, type II Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other lower limb anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lack of ossification of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Vesicular appendix of ovary Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Single outlet ventriculoarterial connection Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chimera 46, XX; 46, XY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Myelocystocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletion of chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    D - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of lacrimal system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of ilium Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Webbed penis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other anomalies of larynx, trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital absence of pancreas Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other specified other correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Floppy infant syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Autosomal deletion - mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Dentin dysplasia, type II Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Atrioventricular septal defect - ventricular component Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of anterior chamber of eye Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ring chromosome 4 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Commissural fusion of pulmonary valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Diphallus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other lower limb and pelvic girdle anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Myopathy with cytoplasmic inclusions Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Double outlet from ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Accessory adrenal cortex Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital vertical mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Atrioventricular septal defect - ventricular component under superior bridging leaflet Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    8p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Other anomalies of larynx, trachea or bronchus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    22q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital anomaly of paw Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Right sided atrium connecting to right ventricle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of larynx Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Neuronal heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Imperforate hymen Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Myopathy with abnormality of histochemical fiber type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Abnormal plantar creases Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Acyanotic congenital heart disease Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified congenital musculoskeletal deformities Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Congenital malformations of the nervous system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of parathyroid glands Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of unspecified limb NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified anomalies of unspecified limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Absent left sided atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomaly of chromosome pair 8 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of vulva Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cerebrovascular system anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Abnormal infundibular morphology Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Imperforate vagina Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Type 2 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Obstructive heart anomaly NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of carpal bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Myxomatosis of cardiac valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other obstructive defects of renal pelvis and ureter Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other anomaly of trachea Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anterior leaflet of mitral valve attached to septum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Inherited disorder of keratinization Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Duane's syndrome, type 3 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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