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
anomalie longitudinale d'un metatarsien	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of ulna	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bifid apex of heart (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of lower limb (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of phalanges of hand (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of tibia (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caudal hemivertebra	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of limb	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of fibula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of humerus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with common atrioventricular orifice	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to subpulmonary fibromuscular shelf (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectromelia	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
croissance partielle d'un membre entier	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myelin deficiency of the optic disc	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of tarsal bone	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of carpal bone	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of radius (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of femur (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bertolotti's syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Longitudinal deficiency of phalanges of foot	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of tibia AND/OR fibula	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pancreatic trypsin deficiency (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
diastématomyélie	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Left ventricular outflow tract obstruction due to malaligned outlet septum (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spina bifida of sacral region (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Split spinal cord malformation (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to atrioventricular valve (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double outlet right ventricle with noncommitted ventricular septal defect	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to diaphragm (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with separate atrioventricular orifices (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spina bifida of sacral region (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mirror image bronchial anatomy (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Eisenmenger's defect	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bifid apex of heart (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Horner's teeth (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Solitary ventricle of indeterminate morphology (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Two atrioventricular valves in double inlet ventricle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Divided right atrium	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double outlet right ventricle with intact ventricular septum (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Divided left atrium (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
complexe d'Eisenmenger	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with common atrioventricular orifice	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Eisenmenger's syndrome (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to atrioventricular valve (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistent common pulmonary vein (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to subpulmonary fibromuscular shelf (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myelin deficiency of the optic disc	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Myelocele with hydrocephalus	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	3
diastématomyélie	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bertolotti's syndrome	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to malaligned outlet septum (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	4
connexion ventriculoartérielle anormale	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double outlet right ventricle with subaortic ventricular septal defect	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ventricular imbalance (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Criss-cross heart with leftward rotation (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Criss-cross heart with rightward rotation (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double outlet right ventricle	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal atrial arrangement (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Functionally univentricular heart	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Functionally congenital single lung (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Premature restriction of foramen ovale (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neuronal heterotopia (morphologic abnormality)	Is a	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder)	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)	1
Double outlet right ventricle with subaortic ventricular septal defect	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double outlet right ventricle with noncommitted ventricular septal defect	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting anomalously (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double outlet ventriculoarterial connections	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Collaterals to pulmonary arteries	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal course of aortic arch and descending aorta (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Abnormal course of aortic arch and descending aorta (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mirror image bronchial anatomy (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Descending aorta anterior and same side as azygos vein with azygos continuity of inferior caval vein	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Confluent aortopulmonary window with minimal superior and inferior rim (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Confluent aortopulmonary window with minimal superior and inferior rim (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Proximal aortopulmonary window with minimal inferior rim	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Multiple mitral papillary muscles with hammock valve (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Anomalous pulmonary to systemic collateral vein (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Solitary ventricle of indeterminate morphology (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intermediate aortopulmonary window with adequate superior and inferior rim (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cor triatriatum	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Common arterial trunk with crossed over pulmonary arteries (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Common arterial trunk with obstruction of aortic arch (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of systemic vein (disorder)	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal aortopulmonary window with minimal superior rim	Associated morphology	False	anomalie congénitale	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set

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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