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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Other tongue anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Deletion with complex rearrangement Associated morphology False anomalie congénitale Inferred relationship Some
    Autosomal recessive familial woolly hair Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete monosomy 21 (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of large intestine Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of hand Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital portal-systemic shunt Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lithopedion Associated morphology False anomalie congénitale Inferred relationship Some 1
    Rud's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital hallux varus Direct morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of eyelid Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of urinary bladder (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 10 Associated morphology False anomalie congénitale Inferred relationship Some
    Ankyloblepharon filiforme adnatum (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    6p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Carpenter's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of sternocleidomastoid muscle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of arch of caudal vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of mirror hand Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital duodenal obstruction due to annular pancreas Associated morphology False anomalie congénitale Inferred relationship Some 1
    15q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Papyraceous fetus - delivered Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dental midlines coincident and incorrect Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dentin dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lack of ossification of forepaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Defect of vertebral segmentation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ichthyosiform erythroderma Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Focal nodular hypoplasia of liver Associated morphology False anomalie congénitale Inferred relationship Some 1
    Circumscribed palmoplantar keratoderma Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital bronchiectasis Associated morphology False anomalie congénitale Inferred relationship Some 2
    [X]Other congenital malformations of cardiac septa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sotos' syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of iris Associated morphology False anomalie congénitale Inferred relationship Some 1
    Right hypoplastic heart syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormal left ventricular muscle band (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of skull shape Associated morphology False anomalie congénitale Inferred relationship Some 1
    Chromosomal alterations of group D (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    incurvation posturale congénitale de la colonne vertébrale Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other anomalies of lip Associated morphology False anomalie congénitale Inferred relationship Some 1
    Left ventricular outflow tract atresia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified ureter anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Atresia of vein NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anorectal anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fetal postural deformity Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified congenital anomaly of lacrimal passages Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital alveolar hypoplasia of mandible Associated morphology False anomalie congénitale Inferred relationship Some 2
    [X]Other congenital malformations of great arteries Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ichthyosis hystrix gravior of Rheydt Associated morphology False anomalie congénitale Inferred relationship Some 1
    Late secondary abnormalities of the central nervous system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mesenteric cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Associated morphology False anomalie congénitale Inferred relationship Some
    Papyraceous fetus NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Chromosomal alterations of group C and X Associated morphology False anomalie congénitale Inferred relationship Some
    [X]Other specified congenital malformations of the heart Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital extension contracture of the knee Associated morphology False anomalie congénitale Inferred relationship Some 1
    Multiple supernumerary eye muscles Associated morphology False anomalie congénitale Inferred relationship Some 1
    Horizontal orbital dystopia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Muscle eye brain disease Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital complete heart block Associated morphology False anomalie congénitale Inferred relationship Some 1
    Left ventricular outflow tract obstruction Associated morphology False anomalie congénitale Inferred relationship Some 1
    Encephalo-ophthalmic dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hemimyelocele Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of external female genitalia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Absent tricuspid leaflet Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified ureter anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified muscle, tendon and fascia anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hystrix ichthyosis with deafness Associated morphology False anomalie congénitale Inferred relationship Some 1
    Straddling tricuspid valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of arch of cervical vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cordate pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital insufficiency of heart valve NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    X-linked recessive ichthyosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of hindpaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of nasal sinuses Associated morphology False anomalie congénitale Inferred relationship Some 1
    Localised bullous ichthyosiform erythroderma Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malformation of thumb (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified anomaly of abdominal wall Associated morphology False anomalie congénitale Inferred relationship Some 1
    Nemaline myopathy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ebstein-like malformation of mitral valve (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of aorta Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bilateral craniofacial microsomia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ectopic thyroid tissue Associated morphology False anomalie congénitale Inferred relationship Some 1
    Absence or hypoplasia of the umbilical artery NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Repair of cleft hand Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital eye anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Autosomal recessive ichthyosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    raideur articulaire congénitale associée à une myopathie Associated morphology False anomalie congénitale Inferred relationship Some 1
    11q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Other specified dwarfing syndromes Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of lacrimal apparatus Associated morphology False anomalie congénitale Inferred relationship Some 1
    kyste neurentérique Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ductus arteriosus from retro-oesophageal aortic diverticulum Associated morphology False anomalie congénitale Inferred relationship Some 2
    Branchial cleft sinus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 13 (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ichthyosis hystrix Bäfverstedt type (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False anomalie congénitale Inferred relationship Some
    Morning glory disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 4 Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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