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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 false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Goltz syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    [EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anomalous valve of coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dilatation of lobar intrahepatic bile duct Associated morphology False Congenital anomaly Inferred relationship Some 2
    16q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Nodular embryo Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial mesangial sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lack of ossification of centrum of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of aortic and mitral valves Associated morphology False Congenital anomaly Inferred relationship Some 1
    Camptodactyly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of cervical vertebrae NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of urachus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 5 Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital discoid meniscus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Polymorphous corneal dystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Hypospadias and epispadias Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 17 Associated morphology False Congenital anomaly Inferred relationship Some
    Failure of differentiation of bones of forearm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Displacement of Wharton's duct Associated morphology False Congenital anomaly Inferred relationship Some 2
    4p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital malposition of epididymis Associated morphology False Congenital anomaly Inferred relationship Some 2
    7p partial monosomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Partial trisomy 13 in Patau's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Dilwyn Evans procedure for correction of clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Common arterial trunk and common origin of pulmonary arteries (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot with pulmonary stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ankyloblepharon Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lobulated tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary atresia with confluent pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of spine NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Severe X-linked myotubular myopathy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital short urethra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy 21 in Down's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of bile ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypomyelinogenesis congenita Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bipartite ossification of centrum of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of cervical vertebrae NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital nephrotic syndrome with focal glomerulosclerosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of skull and face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other branchial cleft anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal fusion of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Taenzer's hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genetic abnormality of hair shaft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of corpus callosum NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Obstructive Eustachian valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genodermatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of upper limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of fingers NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of lower limb(s), including pelvic girdle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent left posterior cardinal vein Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cavernous lymphangioma of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of neural structure of trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes equinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of anterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other malformations of precerebral vessels Associated morphology False Congenital anomaly Inferred relationship Some 1
    A rare heterotaxia characterised by complex congenital heart malformations and abnormal lateralisation of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital spondylolisthesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of elbow and upper arm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Urethra or bladder neck atresia or stenosis NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atlanto-occipital malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar keratoderma transgrediens Associated morphology False Congenital anomaly Inferred relationship Some 1
    Megacystis-megaureter syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Middle ear anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of limb(s) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Osteopetrosis with renal tubular acidosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Olivary heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False Congenital anomaly Inferred relationship Some
    Abnormality of canalization and retrogressive differentiation (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Drash syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified urethra or bladder neck atresia or stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital unilateral vesicoureterorenal reflux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hourglass urinary bladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified skull or face bone anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pelvis justo minor Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of epididymis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 7 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    1q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Swan's syndrome II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of integument Associated morphology False Congenital anomaly Inferred relationship Some 1
    8q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Stenosis of infundibulum of right ventricle (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multi-core congenital myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Micrognathism unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Vitreous anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of the digestive system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital thickening of scapula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anomaly of cerebellum NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isomerism of atrial appendages Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fenestration of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Osteopetrosis - intermediate type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dermatoglyphic anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lung agenesis, hypoplasia and dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1

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