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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
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital cerebral arteriovenous aneurysm Associated morphology False kongenit anomali Inferred relationship Some 1
    Aortic root congenital abnormality Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of angle of anterior chamber of eye Associated morphology False kongenit anomali Inferred relationship Some 1
    Goniodysgenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Barkan membrane Associated morphology False kongenit anomali Inferred relationship Some 1
    Hydrocephalus associated with late onset aqueduct stenosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit blokeret tårekanal Associated morphology False kongenit anomali Inferred relationship Some 1
    Epiblepharon Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital ankyloblepharon (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Imperforate lacrimal punctum Associated morphology False kongenit anomali Inferred relationship Some 1
    Supernumerary lacrimal punctum Associated morphology False kongenit anomali Inferred relationship Some 1
    Agenesis of nasolacrimal duct Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital lacrimal fistula Associated morphology False kongenit anomali Inferred relationship Some 2
    Lenticonus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anterior staphyloma Associated morphology False kongenit anomali Inferred relationship Some 1
    Pseudo-polycoria Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital heterochromia iridis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cyst of iris Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of vitreous humour Associated morphology False kongenit anomali Inferred relationship Some 1
    Partial hypoplasia of optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    Sectorial hypoplasia of optic disc (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Sectorial hypoplasia of optic disc (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Trabecular dysgenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Horizontal orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Vertical orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Rotational orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Sammenvoksning af trikuspidalklapflige, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit hjerteklapinsufficiens, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    hypoplasi af hjertet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital heart disease, septal and bulbar anomalies Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of relationship of cardiac component Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal relationship of right ventricle to left ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Criss-cross heart Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal relationship of aortic orifice to pulmonary orifice Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of cardiac connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Cardiac septal defects Associated morphology False kongenit anomali Inferred relationship Some 2
    Abnormal atrioventricular connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal atrioventricular connection - biventricular Associated morphology False kongenit anomali Inferred relationship Some 1
    Cor triloculare biventriculare (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Discordant atrioventricular connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Ambiguous atrioventricular connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent atrioventricular connection with straddling valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal atrioventricular connection - univentricular Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet right ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet left ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet to ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent right sided atrioventricular connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Left sided atrium connecting to left ventricle (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Left sided atrium connecting to right ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Left sided atrium connecting to both ventricles Associated morphology False kongenit anomali Inferred relationship Some 1
    Left sided atrium connecting to ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent left sided atrioventricular connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Right sided atrium connecting to right ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Right sided atrium connecting to both ventricles (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Right sided atrium connecting to ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal ventriculoarterial connection Associated morphology False kongenit anomali Inferred relationship Some 3
    Transposition af truncus arteriosus, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 2
    Transposition of aorta Associated morphology False kongenit anomali Inferred relationship Some 2
    Double outlet from ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    Single outlet ventriculoarterial connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Solitary aortic trunk with pulmonary atresia Associated morphology False kongenit anomali Inferred relationship Some 1
    Solitary pulmonary trunk with aortic atresia Associated morphology False kongenit anomali Inferred relationship Some 1
    Solitary arterial trunk (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Abnormality of right superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    Atretic right superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    Absent right superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 2
    Saccular dilatation of right superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalous insertion of right superior vena cava to left atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    Bilateral superior vena cava (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Inferior vena cava interruption with left sided hemiazygos continuation Associated morphology False kongenit anomali Inferred relationship Some 2
    Inferior vena cava interruption with right sided azygos continuation Associated morphology False kongenit anomali Inferred relationship Some 2
    Inferior vena cava interruption with bilateral azygos continuation Associated morphology False kongenit anomali Inferred relationship Some 2
    Abnormal inferior vena caval connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Inferior vena cava connecting to morphological left atrium Associated morphology False kongenit anomali Inferred relationship Some 3
    Inferior vena cava connecting to coronary sinus (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Inferior vena cava to left of spine Associated morphology False kongenit anomali Inferred relationship Some 2
    Inferior cava to left of spine with right descending aorta Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalous termination of right pulmonary vein Associated morphology False kongenit anomali Inferred relationship Some 1
    Obstructed pulmonary venous connection Associated morphology False kongenit anomali Inferred relationship Some 2
    Coronary sinus abnormality Associated morphology False kongenit anomali Inferred relationship Some 1
    Coronary sinus defect in left atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    Coronary sinus orifice atresia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital coronary sinus stenosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Coronary sinus to left ventricle fistula (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Ductus venosus abnormality Associated morphology False kongenit anomali Inferred relationship Some 2
    Patent ductus venosus Associated morphology False kongenit anomali Inferred relationship Some 1
    Closed ductus venosus Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal connection of hepatic vein to atrium Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenit abnormitet af atrier og atrieseptum Associated morphology False kongenit anomali Inferred relationship Some 1
    Isomerism of atrial appendages Associated morphology False kongenit anomali 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 kongenit anomali Inferred relationship Some 1
    Isomerism of left atrial appendage (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Mirror imaged atria Associated morphology False kongenit anomali Inferred relationship Some 1
    Right atrial abnormality (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Prominent valve of inferior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    Obstructive Eustachian valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Prolapse of Eustachian valve Associated morphology False kongenit anomali Inferred relationship Some 1
    anomal klap i sinus coronarius Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormality of right atrial appendage Associated morphology False kongenit anomali Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

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