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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
anomalie congénitale	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
anomalie congénitale	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital cerebral arteriovenous aneurysm (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aortic root congenital abnormality	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of angle of anterior chamber of eye	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goniodysgenesis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Barkan membrane (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hydrocephalus associated with late onset aqueduct stenosis (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
obstruction congénitale d'un canalicule lacrymal	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epiblepharon	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ankyloblepharon	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Imperforate lacrimal punctum	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Supernumerary lacrimal punctum	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of nasolacrimal duct	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital lacrimal fistula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lenticonus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anterior staphyloma	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-polycoria	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heterochromia iridis (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cyst of iris	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of vitreous humour	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial hypoplasia of optic disc (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial hypoplasia of optic disc (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sectorial hypoplasia of optic disc	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sectorial hypoplasia of optic disc	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trabecular dysgenesis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Horizontal orbital dystopia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vertical orbital dystopia	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rotational orbital dystopia	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fusion of tricuspid valve cusps NEC	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital insufficiency of heart valve NEC	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypoplasia of heart NOS	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease, septal and bulbar anomalies (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of relationship of cardiac component	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal relationship of right ventricle to left ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Criss-cross heart	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal relationship of aortic orifice to pulmonary orifice	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of cardiac connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cardiac septal defects	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Abnormal atrioventricular connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal atrioventricular connection - biventricular (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cor triloculare biventriculare (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Discordant atrioventricular connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ambiguous atrioventricular connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Absent atrioventricular connection with straddling valve	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal atrioventricular connection - univentricular	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double inlet ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double inlet right ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double inlet left ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double inlet to ventricle of indeterminate morphology (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Absent right sided atrioventricular connection (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left sided atrium connecting to left ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left sided atrium connecting to right ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left sided atrium connecting to both ventricles	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left sided atrium connecting to ventricle of indeterminate morphology	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Absent left sided atrioventricular connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Right sided atrium connecting to right ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Right sided atrium connecting to both ventricles	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Right sided atrium connecting to ventricle of indeterminate morphology	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
connexion ventriculoartérielle anormale	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Transposition of arterial trunk NEC	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Transposition of aorta (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Double outlet from ventricle of indeterminate morphology	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Single outlet ventriculoarterial connection (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Solitary pulmonary trunk with aortic atresia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Solitary arterial trunk (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Abnormality of right superior vena cava (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atretic right superior vena cava	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Absent right superior vena cava	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Saccular dilatation of right superior vena cava	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomalous insertion of right superior vena cava to left atrium	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral superior vena cava	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inferior vena cava interruption with left sided hemiazygos continuation	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inferior vena cava interruption with right sided azygos continuation (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inferior vena cava interruption with bilateral azygos continuation (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Abnormal inferior vena caval connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inferior vena cava connecting to morphological left atrium (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Inferior vena cava connecting to coronary sinus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inferior vena cava to left of spine	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inferior cava to left of spine with right descending aorta	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomalous termination of right pulmonary vein	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Obstructed pulmonary venous connection	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coronary sinus abnormality (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Coronary sinus defect in left atrium	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Coronary sinus orifice atresia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital coronary sinus stenosis	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coronary sinus to left ventricle fistula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ductus venosus abnormality (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Patent ductus venosus (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Closed ductus venosus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal connection of hepatic vein to atrium	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of atria and atrial septum	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Isomerism of atrial appendages	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	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	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Isomerism of left atrial appendage (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mirror imaged atria	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Right atrial abnormality (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prominent valve of inferior vena cava	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Obstructive Eustachian valve	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prolapse of Eustachian valve	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomalous valve of coronary sinus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormality of right atrial appendage	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

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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
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module