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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 (morphologic abnormality) false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cerebrovascular system anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Foramen ovale valvar aneurysm Associated morphology False anomalie congénitale Inferred relationship Some 2
    Uterus bicameratus vetularum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalies of cerebrum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Harlequin ichthyosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Undergrowth of whole upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Talipes, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Midline deviation of dental arch Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of finger Associated morphology False anomalie congénitale Inferred relationship Some 1
    Klinefelter's syndrome, XXYY (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    High assimilation pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lumbosacral prespondylolisthesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fetal aminopterin syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    2p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of uvula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of uterus affecting obstetric care Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of posterior segment of eye Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormal fusion of hindpaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomalies of spine NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    translocation autosomique équilibrée Associated morphology False anomalie congénitale Inferred relationship Some
    Spina bifida Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete trisomy 9 syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital spine deformity NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Specified anomaly of sclera NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of lumbar vertebra NEC NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Erythrokeratoderma progressiva of Gottron Associated morphology False anomalie congénitale Inferred relationship Some 1
    Progressive palmoplantar keratoderma of Greither Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ectopic bone and cartilage in lung Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other specified congenital malformations of upper alimentary tract Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of vein Associated morphology False anomalie congénitale Inferred relationship Some 1
    Structural anomaly of the cochlea and vestibular labyrinth Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other mis-shapen ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of radius Associated morphology False anomalie congénitale Inferred relationship Some 1
    Balanced translocation and insertion in normal individual Associated morphology False anomalie congénitale Inferred relationship Some
    Mixed congenital myopathy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Caudal regression syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other specified whole chromosome trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of neck NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of uterus complicating postpartum care - baby delivered during previous episode of care Associated morphology False anomalie congénitale Inferred relationship Some 1
    Transverse arrest metacarpal other Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bipartite ossification of centrum of thoracic vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Monosomies and deletions from the autosomes NOS Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital chest wall deformity NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of lower limb (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Situs inversus, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital displaced kidney Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified spina bifida without mention of hydrocephalus NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bilateral isomeric atria Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cervical spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalous cardiac muscle bands Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of gallbladder Associated morphology False anomalie congénitale Inferred relationship Some 1
    Balanced rearrangement and structural marker (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of the peripheral nervous system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Impervious ureter Associated morphology False anomalie congénitale Inferred relationship Some 1
    Repair of interrupted aortic arch (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of skull and face bones Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital retinal changes Associated morphology False anomalie congénitale Inferred relationship Some 1
    Small left colon syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of neck Associated morphology False anomalie congénitale Inferred relationship Some 1
    Situs inversus with levocardia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Primary correction of clubfoot (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Hirschsprung's disease and allied congenital conditions NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    14q partial proximal trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of vas deferens Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of pulmonary veins Associated morphology False anomalie congénitale Inferred relationship Some 1
    Undergrowth of upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cebocephaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Misplaced ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Aprosencephaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Heyman operation (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Bicornuate uterus in pregnancy, childbirth or puerperium NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Septoparietal trabeculations Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of great veins Associated morphology False anomalie congénitale Inferred relationship Some 1
    Transverse arrest carpal level (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital dysmotility of small intestine (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete trisomy 16 syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Imperforate lacrimal punctum Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other specified congenital malformations of ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of musculoskeletal system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Albinotic fundus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormality of ductus arteriosus (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other condition due to autosomal anomaly Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of middle ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of carpal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other mouth anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Endocardial fibroelastosis of right atrium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus - open NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Mosaicism - lines with various numbers of X chromosomes Associated morphology False anomalie congénitale Inferred relationship Some
    perte secondaire de la longueur de l'arcade dentaire Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of basisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Longitudinal deficiency of upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of calcaneus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of back Associated morphology False anomalie congénitale Inferred relationship Some 1
    18p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Right atrial appendage absent Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified spina bifida with hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anterolateral muscle band Associated morphology False anomalie congénitale Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False anomalie congénitale Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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