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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
    Goltz syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    [EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Anomalous valve of coronary sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital dilatation of lobar intrahepatic bile duct Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    16q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Nodular embryo Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Familial mesangial sclerosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lack of ossification of centrum of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of aortic and mitral valves Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Camptodactyly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of cervical vertebrae NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of urachus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 5 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital discoid meniscus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Posterior polymorphous corneal dystrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Hypospadias and epispadias Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 17 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Failure of differentiation of bones of forearm Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Displacement of Wharton's duct Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    4p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital malposition of epididymis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    7p partial monosomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Partial trisomy 13 in Patau's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Dilwyn Evans procedure for correction of clubfoot Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Common arterial trunk and common origin of pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Tetralogy of Fallot with pulmonary stenosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital ankyloblepharon Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lobulated tongue Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pulmonary atresia with confluent pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other anomaly of spine NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Severe X-linked myotubular myopathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital short urethra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial trisomy 21 in Down's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital anomaly of bile ducts Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypomyelinogenesis congenita Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Bipartite ossification of centrum of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomalies of cervical vertebrae NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital nephrotic syndrome with focal glomerulosclerosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified congenital malformations of skull and face bones Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other branchial cleft anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of mitral valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital abnormal fusion of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Taenzer's hair Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Genetic abnormality of hair shaft Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of corpus callosum NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Obstructive Eustachian valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Genodermatosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Constriction ring of upper limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other anomaly of fingers NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of lower limb(s), including pelvic girdle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Persistent left posterior cardinal vein Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cavernous lymphangioma of skin Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of neural structure of trunk Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Talipes equinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    [X]Other congenital malformations of anterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other malformations of precerebral vessels Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Isomerism of right atrial appendage Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital spondylolisthesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of skin Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomalies of elbow and upper arm Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Urethra or bladder neck atresia or stenosis NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Atlanto-occipital malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft internal sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Palmoplantar keratoderma transgrediens Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Megacystis-megaureter syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Middle ear anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified congenital malformations of limb(s) Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Osteopetrosis with renal tubular acidosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Syringobulbia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Olivary heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletion of long arm of chromosome 13 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Abnormality of canalization and retrogressive differentiation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Drash syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified urethra or bladder neck atresia or stenosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital unilateral vesicoureterorenal reflux Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hourglass bladder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified skull or face bone anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pelvis justo minor Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital absence of epididymis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomaly of chromosome pair 7 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    1q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Swan's syndrome II Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of integument Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    8q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Stenosis of infundibulum of right ventricle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Multi-core congenital myopathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Micrognathism unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Vitreous anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of the digestive system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital thickening of scapula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Anomaly of cerebellum NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Isomerism of atrial appendages Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital fenestration of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Osteopetrosis - intermediate type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dermatoglyphic anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lung agenesis, hypoplasia and dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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