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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    561791000077117 anomalie congénitale (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    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 est un(e) (attribut) structure anormale sur le plan morphologique false Inferred relationship Some
    Congenital anomaly est un(e) (attribut) Developmental abnormality false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Thoracic myelocystocele morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Tubule of epoophoron morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    18p partial trisomy syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Incomplete ossification of squamosal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Single vessel of umbilical cord morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified correction of congenital deformity of hand Direct morphology False Congenital anomaly Inferred relationship Some 1
    Commissural fusion of aortic valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Persistent fetal circulation syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Cleft mandible morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Bilateral superior vena cava morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ocular adnexa morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of pharynx morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of fibula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Parkes Weber syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Heart bulb or septal closure defects NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Kohlschutter's syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    hydrocéphalie congénitale morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Mosaic XY/XXY morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Preductal interruption of aorta morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified birthmark morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Persistent aortic arch convolutions morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Dolichopellic pelvis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    3p partial trisomy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital anomaly of lower alimentary tract morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Additional sex chromosome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital abnormality of uterus in pregnancy, childbirth and the puerperium morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Deletions with other complex rearrangements morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital thickening of forepaw phalanx morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of esophagus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Hypospadias, balanic morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of iris and ciliary body morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Mosaic including XXXXY morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Balanced rearrangements and structural markers NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    perte en longueur de l'arcade dentaire à la suite de la perte de dents primaires morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Developmental anomaly of vitelline duct (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Absent bridging vein morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome XXXY morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Other spina bifida with hydrocephalus NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital ringed hair morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    O/E - pigeon chest morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Cystic testicular dysplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital ichthyosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Marie Unna syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of intestinal tract morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cartilage morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Accessory tissue on pulmonary valve cusp morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Mis-shapen spleen morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of nails morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other heart bulb and septal closure defect morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Developmental malformation of branchial arch (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Bifid kidney morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Talipes (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other deletions from the autosomes morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital anomaly of squamosal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of stomach morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital ichthyosiform erythroderma morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Sex chromosome mosaicism morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital flat back deformity (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomalies of thoracic cage unspecified morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 20 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Lack of ossification of squamosal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of bones morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of cervix morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of hyoid bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    syndrome de prune belly avec sténose pulmonaire, arriération mentale et surdité morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Occipital dysplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of heart (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Other duplication of limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Tubular hypoplasia of aorta morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomalous muscle bands of left ventricle morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of scapula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of skin morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of radius morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Bronchial atresia with segmental pulmonary emphysema morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    Other congenital skin anomalies morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis, type 3 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital enlarged nails morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Atresia of anterior urethra morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Granular cell hypoplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    maladie cardiaque congénitale morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of thoracic vertebra morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other phakomatoses, not elsewhere classified morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Mummified fetus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lumpy scalp syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Left ventricular-right atrial communication morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Abnormality of right superior vena cava morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lower moiety ureter of duplex kidney morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Short preputial frenulum morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of musculoskeletal system NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Birth mark, unspecified morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Dual coronary orifice morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital musculoskeletal deformity NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of scapula NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Transposition of aorta morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of forepaw phalanx morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Other congenital anomaly of liver morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida without hydrocephalus - open morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the urinary system morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of sacral vertebra morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Netherton's syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    perte en longueur de l'arcade dentaire causée par l'absence congénitale de dents morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    GB English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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