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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
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie du développement Is a anomalie congénitale false Inferred relationship Some
    anomalie du développement Is a Morphologically abnormal structure false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Port-wine stain with oculocutaneous melanosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Supradiaphragmatic total anomalous pulmonary venous return Associated morphology False anomalie du développement Inferred relationship Some 2
    Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Discontinuous pulmonary arteries (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Cheilognathoschisis Associated morphology False anomalie du développement Inferred relationship Some 4
    Autosomal dominant lamellar ichthyosis Associated morphology False anomalie du développement Inferred relationship Some 3
    Double aortic arch with unilateral hypoplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Autosomal recessive familial woolly hair Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital onychauxis Associated morphology False anomalie du développement Inferred relationship Some 3
    Total anomalous pulmonary venous connection of intracardiac type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous course of coronary artery posterior to pulmonary trunk and aorta Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital anomaly of vena cava Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malposition of superior vena cava Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous course of coronary artery posterior to aorta (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Common truncus arteriosus (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Cavernous lymphangioma of skin Associated morphology False anomalie du développement Inferred relationship Some 3
    Hystrix ichthyosis with deafness Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital vascular malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Bullous ichthyosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous coronary artery with acute angulation of less than 45 degrees relative to aorta (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology False anomalie du développement Inferred relationship Some 2
    Interruption of aortic arch distal to subclavian artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Retrosternal thyroid gland Associated morphology False anomalie du développement Inferred relationship Some 2
    Synophrys Associated morphology False anomalie du développement Inferred relationship Some 3
    Median mandibular cyst Associated morphology False anomalie du développement Inferred relationship Some 2
    Persistent vertical vein Associated morphology False anomalie du développement Inferred relationship Some 2
    Inherited cutis laxa Associated morphology False anomalie du développement Inferred relationship Some 2
    Nasal encephalocele Associated morphology False anomalie du développement Inferred relationship Some 4
    Deep vein aplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital systemic venous atrium Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of nasal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Scimitar syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Common arterial trunk and separate origin of pulmonary arteries (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Anomalies of the aorta excluding coarction Associated morphology False anomalie du développement Inferred relationship Some 2
    Major systemic to pulmonary collateral artery supplying both lungs (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Bifid nail Associated morphology False anomalie du développement Inferred relationship Some 2
    Pulmonary venous confluence remote from left atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Low anorectal malformation Associated morphology False anomalie du développement Inferred relationship Some 3
    Systemic to pulmonary collateral artery from abdominal aorta (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked recessive ichthyosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Annular pancreas Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital malposition of the thyroid gland Associated morphology False anomalie du développement Inferred relationship Some 2
    Lumpy scalp syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Occipital dysplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital ichthyosis of skin Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous pulmonary venous drainage Associated morphology False anomalie du développement Inferred relationship Some 2
    Cervical aortic arch Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of inferior vena cava (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital pulmonary vein confluence Associated morphology False anomalie du développement Inferred relationship Some 2
    Common arterial trunk with pulmonary origin from truncal valve sinus (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Incomplete ossification of presphenoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Partial anomalous pulmonary venous connection of entire right lung (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Interrupted aortic arch between left common carotid and brachiocephalic artery Associated morphology False anomalie du développement Inferred relationship Some 2
    Double barrel dual coronary artery orifices within aortic sinus (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Major systemic to pulmonary collateral artery supplying entire right lung (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital malformation of anterior pituitary Associated morphology False anomalie du développement Inferred relationship Some 2
    Cutaneous vascular malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Interruption of aortic arch between left common carotid artery and right common carotid artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Left superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous portal vein termination Associated morphology False anomalie du développement Inferred relationship Some 2
    Multiple dysplasia syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital abnormality of ductus arteriosus (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Pseudocoarctation of aorta Associated morphology False anomalie du développement Inferred relationship Some 2
    Dermatoglyphs - skin lines Associated morphology False anomalie du développement Inferred relationship Some 2
    Persistent common pulmonary vein (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Total anomalous pulmonary venous connection of supracardiac type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of supraoccipital bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Naevus comedonicus Associated morphology False anomalie du développement Inferred relationship Some 3
    Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Mixed vascular malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anosmia Associated morphology False anomalie du développement Inferred relationship Some 2
    Interruption of aortic arch between subclavian artery and common carotid artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Vomero-premaxillary faciosynostosis Associated morphology False anomalie du développement Inferred relationship Some 3
    Generalised essential telangiectasia Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital morphological disturbances of hair Associated morphology False anomalie du développement Inferred relationship Some 2
    Craniolacunia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital koilonychia Associated morphology False anomalie du développement Inferred relationship Some 3
    Non-bullous ichthyosiform erythroderma Associated morphology False anomalie du développement Inferred relationship Some 2
    Lateral developmental cyst of jaw Associated morphology False anomalie du développement Inferred relationship Some 2
    Interrupted aortic arch distal to left subclavian artery Associated morphology False anomalie du développement Inferred relationship Some 2
    Coarctation of pulmonary artery Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital abnormality of skull and face bones Associated morphology False anomalie du développement Inferred relationship Some 2
    Pachydermoperiostosis of nail Associated morphology False anomalie du développement Inferred relationship Some 3
    Peutz-Jeghers syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital web of esophagus Associated morphology False anomalie du développement Inferred relationship Some 2
    Cobb's syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Lamellar ichthyosis (limited type) (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Primordial cyst Associated morphology False anomalie du développement Inferred relationship Some 3
    Systemic to pulmonary collateral artery from right renal artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Persistent left posterior cardinal vein Associated morphology False anomalie du développement Inferred relationship Some 3
    Pulmonary hypertension in neurofibromatosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Birthmark Associated morphology False anomalie du développement Inferred relationship Some 2
    Raised birthmark Associated morphology False anomalie du développement Inferred relationship Some 2
    Arteriovenous malformation of skin Associated morphology False anomalie du développement Inferred relationship Some 2
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of parietal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Persistent descending vein Associated morphology False anomalie du développement Inferred relationship Some 2
    Supracardiac location of anomalous pulmonary venous connection to hemiazygos vein (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Podencephalus Associated morphology False anomalie du développement Inferred relationship Some 2
    Intracardiac location of anomalous pulmonary venous connection (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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