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

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