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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 (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some

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

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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