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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190336012 Developmental malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190337015 Developmental defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190338013 Dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190339017 Anomalous formation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190340015 Abnormal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190341016 Malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208681014 Developmental abnormality en Synonym (core metadata concept) 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
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Some
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital enlarged kidney Associated morphology False Developmental anomaly Inferred relationship Some 2
    Partial agenesis of pericardium Associated morphology False Developmental anomaly Inferred relationship Some 3
    Class III buccal segment relationship - half unit Associated morphology False Developmental anomaly Inferred relationship Some 4
    Buccal maxillary posterior crossbite (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Single ventricular outlet above right ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Duplex kidney with reflux in one ureter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bicornuate uterus - baby delivered Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft lip sequence Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malformation of salivary glands and ducts (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple intracardiac shunts Associated morphology False Developmental anomaly Inferred relationship Some 3
    Dental midlines coincident and incorrect Associated morphology False Developmental anomaly Inferred relationship Some 4
    Tetralogy of Fallot Associated morphology False Developmental anomaly Inferred relationship Some 7
    True generalized microdontia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double outlet right ventricle with subaortic ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Arterial anomaly of umbilical cord Associated morphology False Developmental anomaly Inferred relationship Some 2
    Amelogenesis imperfecta Associated morphology False Developmental anomaly Inferred relationship Some 3
    Accessory tissue on tricuspid leaflet Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acephalostomia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of uterus in pregnancy, childbirth and the puerperium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Midline deviation of dental arch Associated morphology False Developmental anomaly Inferred relationship Some 4
    Right ventricular outflow tract obstruction due to septal hypertrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Aortic orifice anterior left with respect to pulmonary orifice (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double outlet right ventricle with noncommitted ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract obstruction due to diaphragm (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Discoid kidney Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete bilateral cleft palate Associated morphology False Developmental anomaly Inferred relationship Some 3
    Abnormal atrioventricular connection (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double urinary meatus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital short urethra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Precocious exfoliation due to ectopic eruption of proximate tooth (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Peg-shaped teeth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hypoplasia of right ventricular outflow tract and trabecular area Associated morphology False Developmental anomaly Inferred relationship Some 3
    Commissural fusion of aortic valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anterior urethral valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Eisenmenger's defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Overriding tricuspid valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Odontogenesis imperfecta Associated morphology False Developmental anomaly Inferred relationship Some 2
    Isomerism of left atrial appendage (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilateral isomeric atria Associated morphology False Developmental anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - recessive - rough Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of the urinary tract proper (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Absent right sided atrioventricular connection Associated morphology False Developmental anomaly Inferred relationship Some 2
    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 Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of pericardium Associated morphology False Developmental anomaly Inferred relationship Some 3
    Stenosis of systemic to pulmonary artery collateral artery Associated morphology False Developmental anomaly Inferred relationship Some 4
    Right ventricular outflow tract obstruction due to abnormal cardiac muscle bands (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Associated morphology False Developmental anomaly Inferred relationship Some 4
    Complete bilateral cleft palate Associated morphology False Developmental anomaly Inferred relationship Some 3
    Double outlet right ventricle with subpulmonary ventricular septal defect (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Commissural fusion of pulmonary valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of oral cavity Associated morphology False Developmental anomaly Inferred relationship Some 1
    Solitary pulmonary trunk with aortic atresia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital lobulation of kidney Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilateral cleft lip Associated morphology False Developmental anomaly Inferred relationship Some 3
    Premature restriction of foramen ovale (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Posterior buccal occlusion of mandibular teeth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cleft palate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fusion of pulmonary valve segment (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    X-linked periventricular heterotopia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Embryonic cyst of broad ligament Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of relationship of cardiac component Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectopic gastric mucosa - multiple sites (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - recessive pigmented Associated morphology False Developmental anomaly Inferred relationship Some 3
    Secondary dental arch length loss Associated morphology False Developmental anomaly Inferred relationship Some 1
    Allantoic cyst Associated morphology False Developmental anomaly Inferred relationship Some 3
    Incomplete cleft hard and soft palate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right ventricular outflow obstruction - tubular Associated morphology False Developmental anomaly Inferred relationship Some 3
    Left sided atrium connecting to left ventricle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Supernumerary pulmonary valve cusps Associated morphology False Developmental anomaly Inferred relationship Some 2
    Supernumerary deciduous maxillary tooth Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pulmonary valve dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of renal pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Criss-cross heart with rightward rotation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right ventricular outflow tract obstruction due to common atrioventricular valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Paroophoron Associated morphology False Developmental anomaly Inferred relationship Some 1
    Byzanthine arch palate Associated morphology False Developmental anomaly Inferred relationship Some 3
    Myocardial bridge of coronary artery (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Brunner's gland adenoma Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital renal failure Associated morphology False Developmental anomaly Inferred relationship Some 2
    Quadricuspid cardiac valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Two chambered right ventricle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Transient tricuspid regurgitation of newborn Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double orifice of tricuspid valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital downward displacement of stomach Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of salivary duct Associated morphology False Developmental anomaly Inferred relationship Some 2
    Embedded tooth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right ventricular outflow tract absent Associated morphology False Developmental anomaly Inferred relationship Some 2
    Venous anomaly of umbilical cord Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital cystic kidney disease Associated morphology False Developmental anomaly Inferred relationship Some 3
    Dentinogenesis imperfecta - Shield's type III Associated morphology False Developmental anomaly Inferred relationship Some 2
    Female epispadias (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Right ventricle to left of left ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Female infertility due to structural congenital anomaly of vagina Associated morphology False Developmental anomaly Inferred relationship Some 2
    Female infertility due to structural congenital anomaly of cervix Associated morphology False Developmental anomaly Inferred relationship Some 2
    Uterus unicornis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Female hypospadias (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Primary vesicoureteric reflux (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Simple ureterocele Associated morphology False Developmental anomaly Inferred relationship Some 3
    Anomalous cardiac muscle bands Associated morphology False Developmental anomaly Inferred relationship Some 2

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