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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 (morphologic abnormality) false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Taenzer's hair (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal recessive ichthyosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of pulmonary veins Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right aortic arch and left descending aorta Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anomalous course of coronary artery anterior to pulmonary trunk and aorta Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital asymmetry of jaw Associated morphology False Developmental anomaly Inferred relationship Some 2
    Systemic to pulmonary collateral artery connecting with artery (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Multiple venous malformation of skin and mucous membrane (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Right superior vena cava connecting to left atrium and right atrium (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Non-erythrodermic lamellar ichthyosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Intracardiac location of anomalous pulmonary venous connection to coronary sinus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left sided azygos continuation of inferior vena cava to left superior vena cava (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Persistent fetal circulation syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital non bullous ichthyosiform erythroderma Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of jaw Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of nasal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ichthyosis bullosa of Siemens Associated morphology False Developmental anomaly Inferred relationship Some 2
    Brugsch's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left superior vena cava persisting to right atrium and left atrium (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double aortic arch with left arch dominant and atresia of right arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Anomalous origin of right ductus arteriosus from right aortic arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Transposition of pulmonary veins Associated morphology False Developmental anomaly Inferred relationship Some 3
    Encephalocele Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of basioccipital bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Supracardiac location of anomalous pulmonary venous connection to azygos vein (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Major systemic to pulmonary collateral artery supplying part of right lung Associated morphology False Developmental anomaly Inferred relationship Some 1
    Bilateral ductus arteriosus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Exencephaly Associated morphology False Developmental anomaly Inferred relationship Some 4
    Incomplete ossification of parietal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital mesenteric cyst Associated morphology False Developmental anomaly Inferred relationship Some 4
    Beaded hair Associated morphology False Developmental anomaly Inferred relationship Some 2
    Inferior cava to left of spine with right descending aorta Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pulmonary venous confluence in vertical orientation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double eyebrow Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of nail Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ichthyosis hystrix gravior of Rheydt Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dextroposition of aorta Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital disease and abnormality of heart, thoracic aorta and pericardium Associated morphology False Developmental anomaly Inferred relationship Some 4
    Major systemic to pulmonary collateral artery Associated morphology False Developmental anomaly Inferred relationship Some 1
    Partial anomalous pulmonary venous connection of entire left lung (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    X-linked ichthyosis with steryl-sulfatase deficiency Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cutis laxa, autosomal recessive Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hemifacial microsomia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dysgenesis of the cerebellum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Systemic to pulmonary collateral artery from descending thoracic aorta Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of maxilla Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ichthyosis linearis circumflexa Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anomalous pulmonary venous drainage to coronary sinus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Porokeratosis of Mibelli Associated morphology False Developmental anomaly Inferred relationship Some 3
    Anomalous insertion of arterial duct Associated morphology False Developmental anomaly Inferred relationship Some 1
    Infracardiac location of anomalous pulmonary venous connection (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Vein of Galen malformation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of endocrine gland Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital ball and socket ankle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Supracardiac location of anomalous pulmonary venous connection to left sided vertical vein (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Tetralogy of Fallot Associated morphology False Developmental anomaly Inferred relationship Some 5
    Retroesophageal pulmonary artery Associated morphology False Developmental anomaly Inferred relationship Some 2
    Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of hair Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of sphenoid wing (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of frontal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double aortic arch with left arch dominant and coarctation of right arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Supracardiac location of anomalous pulmonary venous connection to right superior vena cava (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Retroaortic brachiocephalic vein (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectopic thyroid tissue Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of mandible Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anomalous coronary artery without acute angulation of less than 45 degrees relative to aorta Associated morphology False Developmental anomaly Inferred relationship Some 1
    Fronto-naso-ethmoidal dysostosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anomalous course of coronary artery across right ventricular outflow tract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital cerebral hernia Associated morphology False Developmental anomaly Inferred relationship Some 3
    High anorectal malformation Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of aorta Associated morphology False Developmental anomaly Inferred relationship Some 2
    Segmental neurofibromatosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft mandible Associated morphology False Developmental anomaly Inferred relationship Some 3
    Double aortic arch with left arch dominant and right arch patent (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Capillary fragility abnormality Associated morphology False Developmental anomaly Inferred relationship Some 4
    Stenosis of systemic to pulmonary artery collateral artery Associated morphology False Developmental anomaly Inferred relationship Some 3
    Bullous ichthyosiform erythroderma Associated morphology False Developmental anomaly Inferred relationship Some 2
    Interparietal craniosynostosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Supracardiac location of anomalous pulmonary venous connection to left superior vena cava (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left superior caval vein persisting to coronary sinus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilateral arterial duct with patent left arterial duct and closed right arterial duct Associated morphology False Developmental anomaly Inferred relationship Some 1
    Nevus anemicus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of back Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Localised congenital skull defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Encephalocele of vertex (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Port-wine stain of skin (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Major aortopulmonary collateral artery Associated morphology False Developmental anomaly Inferred relationship Some 1
    Genetic defect of hair shaft (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of tympanic anulus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right aortic arch branching pattern (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of small intestine Associated morphology False Developmental anomaly Inferred relationship Some 2
    Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Port-wine stain with oculocutaneous melanosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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