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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1208681014 Developmental abnormality en Synonym Active Case insensitive SNOMED CT core
    183282017 Developmental anomaly en Synonym Active Case insensitive SNOMED CT core
    190336012 Developmental malformation en Synonym Active Case insensitive SNOMED CT core
    190337015 Developmental defect en Synonym Active Case insensitive SNOMED CT core
    190338013 Dysgenesis en Synonym Active Case insensitive SNOMED CT core
    190339017 Anomalous formation en Synonym Active Case insensitive SNOMED CT core
    190340015 Abnormal development en Synonym Active Case insensitive SNOMED CT core
    190341016 Malformation en Synonym Active Case insensitive SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Neurofibromatosis type 1 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Persistent left superior vena cava Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of epidermal appendages Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of intestinal tract Associated morphology False Developmental abnormality Inferred relationship Some 2
    Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of integument Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital splenorenal shunt Associated morphology False Developmental abnormality Inferred relationship Some 3
    Double aortic arch with right arch dominant and coarctation of left arch Associated morphology False Developmental abnormality Inferred relationship Some 3
    Inferior vena cava to left of spine Associated morphology False Developmental abnormality Inferred relationship Some 2
    Porcupine man Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bilateral patent ductus arteriosus Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hereditary vascular fragility Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital flat back deformity Associated morphology False Developmental abnormality Inferred relationship Some 2
    Incomplete ossification of squamosal bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital pigmentary skin anomalies Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital hypertrichosis lanuginosa Associated morphology False Developmental abnormality Inferred relationship Some 2
    Hypertrichosis with congenital macrogingivae Associated morphology False Developmental abnormality Inferred relationship Some 2
    Systemic to pulmonary collateral artery from right brachiocephalic artery Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital anomaly of basisphenoid bone Associated morphology False Developmental abnormality Inferred relationship Some 3
    Embryonic cyst Is a False Developmental abnormality Inferred relationship Some
    Hypotrichosis with keratosis pilaris and lentiginosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Supracardiac location of anomalous pulmonary venous connection Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pulmonary venous confluence in horizontal orientation Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of alisphenoid bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of interparietal bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of superior vena cava Associated morphology False Developmental abnormality Inferred relationship Some 2
    Anomalous pulmonary venous connection of mixed type Associated morphology False Developmental abnormality Inferred relationship Some 2
    Multiple café-au-lait macules due to neurofibromatosis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Midline cervical cleft Associated morphology False Developmental abnormality Inferred relationship Some 3
    Bayonet hair Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal recessive keratitis-ichthyosis-deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Crouzon syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Frontoethmoidal encephalocele Associated morphology False Developmental abnormality Inferred relationship Some 2
    Interrupted aortic arch between left subclavian and left common carotid artery Associated morphology False Developmental abnormality Inferred relationship Some 2
    Descending aorta anterior and same side as azygos vein with azygos continuity of inferior caval vein Associated morphology False Developmental abnormality Inferred relationship Some 2
    Scimitar syndrome with additional anomalous pulmonary venous connection Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital vascular malformation of lip Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of adrenal gland Associated morphology False Developmental abnormality Inferred relationship Some 2
    Circumflex runs posterior to aorta Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of basioccipital bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pili annulati Associated morphology False Developmental abnormality Inferred relationship Some 2
    Craniofacial microsomia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Neurocutaneous syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bilateral superior vena cava Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of palatine bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Maleformatio ectodermalis generalisata of Bafverstedt Associated morphology False Developmental abnormality Inferred relationship Some 2
    Left superior caval vein persisting to left sided atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Kommerell's diverticulum Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of lower alimentary tract Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bipartite ossification of interparietal bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Common arterial trunk with crossed over pulmonary arteries Associated morphology False Developmental abnormality Inferred relationship Some 4
    Axillary freckling due to neurofibromatosis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Anomalous pulmonary venous drainage to superior vena cava Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital enlargement of fontanelle Associated morphology False Developmental abnormality Inferred relationship Some 1
    Mesenteric cyst Associated morphology False Developmental abnormality Inferred relationship Some 4
    Nasofrontal encephalocele Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital anomaly of valve of vein Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ichthyosis hystrix of Curth-Macklin Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cervical thyroid remnant Associated morphology False Developmental abnormality Inferred relationship Some 2
    Infracardiac location of anomalous pulmonary venous connection to hepatic vein Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cutaneous syndrome with ichthyosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Preauricular cyst Associated morphology False Developmental abnormality Inferred relationship Some 2
    Venous-lymphatic malformation Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital stenosis of oesophagus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Hereditary benign intraepithelial dyskeratosis Associated morphology False Developmental abnormality Inferred relationship Some 4
    Vascular compression of oesophagus by aberrant right subclavian artery arising from descending aorta Associated morphology False Developmental abnormality Inferred relationship Some 4
    Lack of ossification of frontal bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Interrupted aortic arch Associated morphology False Developmental abnormality Inferred relationship Some 2
    Anomalous insertion of arterial duct into distal left pulmonary artery Associated morphology False Developmental abnormality Inferred relationship Some 1
    Vascular neurocutaneous syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Sturge-Weber syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Localised bullous ichthyosiform erythroderma Associated morphology False Developmental abnormality Inferred relationship Some 2
    BIDS syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Common arterial trunk and common origin of pulmonary arteries Associated morphology False Developmental abnormality Inferred relationship Some 4
    Double aortic arch with right arch dominant and atresia of left arch Associated morphology False Developmental abnormality Inferred relationship Some 3
    Splenoportal vascular anomaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lack of ossification of presphenoid bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Naso-palatine duct cyst Associated morphology False Developmental abnormality Inferred relationship Some 3
    Pentalogy of Fallot Associated morphology False Developmental abnormality Inferred relationship Some 6
    Systemic to pulmonary collateral artery Associated morphology False Developmental abnormality Inferred relationship Some 1
    Interruption of coronary artery Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pulmonary venous confluence in direct proximity to left atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lack of ossification of maxilla Associated morphology False Developmental abnormality Inferred relationship Some 2
    Double aortic arch with right arch dominant and left arch patent Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital hypotrichia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Potter's facies Associated morphology False Developmental abnormality Inferred relationship Some 2
    Incontinentia pigmenti syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cutis laxa, autosomal dominant Associated morphology False Developmental abnormality Inferred relationship Some 2
    Right superior caval vein connecting to coronary sinus and then to left sided atrium Associated morphology False Developmental abnormality Inferred relationship Some 3
    Aortic arch centrally descending Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cebocephaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pulmonary artery connecting to coronary artery via collateral artery Associated morphology False Developmental abnormality Inferred relationship Some 2
    Anomalous insertion of arterial duct into right pulmonary artery Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital anomaly of face bones Associated morphology False Developmental abnormality Inferred relationship Some 2
    Parietal encephalocele Associated morphology False Developmental abnormality Inferred relationship Some 3
    Jaw congenital deformities Associated morphology False Developmental abnormality Inferred relationship Some 2
    Oesophageal atresia, stenosis and fistula Associated morphology False Developmental abnormality Inferred relationship Some 2
    Right superior vena cava connecting to coronary sinus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False Developmental abnormality Inferred relationship Some 2
    Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries Associated morphology False Developmental abnormality Inferred relationship Some 2

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