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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 (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Duane's syndrome, type 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncal valve dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital undergrowth of whole of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left sided atrium connecting to left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other balanced rearrangements and structural markers Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myopathy with type I hypotrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fused mitral papillary muscles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duct of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tissue on truncal valve cusp Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single umbilical artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Distal interphalangeal joint symphalangism (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double inlet to ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other atresia and stenosis of urethra and bladder neck Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent atrioventricular connection with straddling valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nasal turbinate Associated morphology False Congenital anomaly Inferred relationship Some 1
    20q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Nagele's pelvis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified primary correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital curly toes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Precocious exfoliation of teeth due to root resorption following trauma (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duplication of digestive system NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary vesicoureteric reflux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of azygos vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication with other complex rearrangement Associated morphology False Congenital anomaly Inferred relationship Some
    Duodenal web Associated morphology False Congenital anomaly Inferred relationship Some 1
    Female infertility due to structural congenital anomaly of cervix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Laryngeal cleft type IV Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of centrum of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Translocation Down syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Anomaly of thyroid gland NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Laryngeal cleft type II (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Beaked pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Brockman operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Mottled tooth NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Minor partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some
    Generalized macrodontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of lower limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localized congenital cutis laxa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida of cervical region Associated morphology False Congenital anomaly Inferred relationship Some 2
    Absence of digestive system NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Straddling mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital disorder of gallbladder and biliary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    L - transposition of the great vessels (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalies of thyroid gland NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrodontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Laryngeal cleft type III Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mottling of enamel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital folds of the posterior segment Associated morphology False Congenital anomaly Inferred relationship Some 1
    4p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Nasal glial heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified heart anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital overgrowth of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bicornuate uterus affecting obstetric care Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other upper limb and shoulder anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital amputation of unspecified limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital deformities of skull, face and jaw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hyperplasia of islet alpha cells with glucagon excess Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital deformity of knee joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lissencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of forefoot (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Precocious exfoliation of teeth due to idiopathic root resorption (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infantile pelvis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified respiratory system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of cornea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ullrich-Feichtiger syndrome, chimera Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of exoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of aorta, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Respiratory system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single congenital cerebral cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    ostéopétrose autosomique dominante bénigne Associated morphology False Congenital anomaly Inferred relationship Some 1
    Malformation of urachus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Upper limb anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of obstetric palsy Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cardiovascular system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital splenorenal shunt (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Skull or face bone anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomies of autosomes NEC Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital extrahepatic portal-systemic shunt Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of great veins Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deep vein aplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of larynx and trachea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial tetrasomy of chromosome 9 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Klinefelter's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Dysgenesis of corpus callosum Associated morphology False Congenital anomaly Inferred relationship Some 1
    22q partial monosomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    utérus bicorne, mère ayant accouché Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital synostosis of lower limb bones (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    sujet avec site autosomique fragile Associated morphology False Congenital anomaly Inferred relationship Some
    Other specified respiratory system anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of spine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ulnar dimelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of lung, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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