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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 (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cutaneous capillary malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Phakomatosis cesioflammea Associated morphology False anomalie du développement Inferred relationship Some 4
    Phakomatosis spilorosea Associated morphology False anomalie du développement Inferred relationship Some 4
    Phakomatosis caesiomarmorata Associated morphology False anomalie du développement Inferred relationship Some 4
    Hypodontia and nail dysgenesis Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital internal tibial torsion Associated morphology False anomalie du développement Inferred relationship Some 1
    Anomaly of interarch distance Associated morphology False anomalie du développement Inferred relationship Some 1
    Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with common atrioventricular orifice (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect and common atrioventricular junction Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect - ventricular component under inferior bridging leaflet Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with restrictive ventricular component (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect - ventricular component Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect - isolated ventricular component Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect - ventricular component under superior bridging leaflet Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect: atrial and ventricular components Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with separate atrioventricular orifices (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Megalencephaly-capillary malformation syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    Megalencephaly-capillary malformation syndrome Associated morphology False anomalie du développement Inferred relationship Some 5
    Ophthalmo-acromelic syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital billowing of mitral valve leaflet (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Phakomatosis cesioflammea Associated morphology False anomalie du développement Inferred relationship Some 3
    Phakomatosis spilorosea Associated morphology False anomalie du développement Inferred relationship Some 3
    Phakomatosis caesiomarmorata Associated morphology False anomalie du développement Inferred relationship Some 3
    Microcephaly-capillary malformation syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Isolation of left subclavian artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Isolation of right subclavian artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Cerebral-retinal arteriovenous aneurysm (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital heart block Associated morphology False anomalie du développement Inferred relationship Some 2
    Late congenital syphilitic polyneuropathy (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital bowing of tibia and/or fibula (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital conduction defect (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Isolation of subclavian artery Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital reticular ichthyosiform erythroderma (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    exomphale congénitale Associated morphology False anomalie du développement Inferred relationship Some 4
    Atrioventricular septal defect with additional muscular ventricular septal defect (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Structural developmental anomalies of neurenteric canal (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Char syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    Mowat-Wilson syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Megalencephalic leukoencephalopathy with subcortical cysts Associated morphology False anomalie du développement Inferred relationship Some 3
    Manitoba oculotrichoanal syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    Retinal detachment and occipital encephalocele Associated morphology False anomalie du développement Inferred relationship Some 10
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Isolation of brachiocephalic trunk Associated morphology False anomalie du développement Inferred relationship Some 4
    Capillary malformation-arteriovenous malformation syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Cutis gyrata syndrome of Beare and Stevenson Associated morphology False anomalie du développement Inferred relationship Some 3
    Aortic valve overriding ventricular septum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Megacystis-megaureter syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    Aplasia of muscle Associated morphology False anomalie du développement Inferred relationship Some 3
    Retinal detachment and occipital encephalocele Associated morphology False anomalie du développement Inferred relationship Some 11
    Anophthalmos Associated morphology False anomalie du développement Inferred relationship Some 4
    Cerebral cortical dysgenesis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Spina bifida aperta of lumbar spine (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Developmental abnormality of cusp of tooth (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malformation of bladder and urethra Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital malformation of bladder and urethra Associated morphology False anomalie du développement Inferred relationship Some 3
    Spina bifida occulta Associated morphology False anomalie du développement Inferred relationship Some 5
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False anomalie du développement Inferred relationship Some 5
    Fissured spine Associated morphology False anomalie du développement Inferred relationship Some 5
    Congenital split ear lobe (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Myelocystocele Associated morphology False anomalie du développement Inferred relationship Some 5
    X-linked dyskeratosis congenita (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Occult spinal dysraphism sequence Associated morphology False anomalie du développement Inferred relationship Some 6
    Thoracic myelocystocele Associated morphology False anomalie du développement Inferred relationship Some 5
    Spina bifida without hydrocephalus - open Associated morphology False anomalie du développement Inferred relationship Some 5
    Cervical myelocystocele (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Myeloschisis Associated morphology False anomalie du développement Inferred relationship Some 3
    Spina bifida aperta of cervical spine (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Fourth branchial cleft cyst (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Thoracic spina bifida with hydrocephalus Associated morphology False anomalie du développement Inferred relationship Some 6
    Atlanto-occipital malformation Associated morphology False anomalie du développement Inferred relationship Some 3
    Descending aorta anterior and same side as azygos vein with absent inferior vena cava (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    First branchial cleft cyst Associated morphology False anomalie du développement Inferred relationship Some 3
    Amelogenesis imperfecta co-occurrent with cone rod dystrophy Associated morphology False anomalie du développement Inferred relationship Some 3
    Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Solitary median maxillary central incisor syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    First and second branchial arch syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    First and second branchial arch syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Spina bifida aperta of thoracic spine (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Autosomal recessive dyskeratosis congenita Associated morphology False anomalie du développement Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False anomalie du développement Inferred relationship Some 5
    Thoracic spina bifida without hydrocephalus - open Associated morphology False anomalie du développement Inferred relationship Some 5

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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