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6920004: Defect (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    12439018 Defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    809119010 Defect (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2610311000005115 Defekt da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Defekt Is a Mechanical abnormality false Inferred relationship Some
    Defekt Is a Mechanical lesion false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Persistent ostium secundum Associated morphology False Defekt Inferred relationship Some 4
    Malaligned atrial septum Associated morphology False Defekt Inferred relationship Some 4
    Double outlet right atrium Associated morphology False Defekt Inferred relationship Some 4
    Congenital atrial septal defect (disorder) Associated morphology False Defekt Inferred relationship Some 4
    Restrictive interatrial communication with obligatory shunt (disorder) Associated morphology False Defekt Inferred relationship Some 4
    Patching of coronary sinus atrial septal defect Direct morphology False Defekt Inferred relationship Some 4
    Double outlet left atrium Associated morphology False Defekt Inferred relationship Some 6
    Interatrial communication through coronary sinus orifice (disorder) Associated morphology False Defekt Inferred relationship Some 6
    Atrial septal defect with endocardial cushion defect, partial type Associated morphology False Defekt Inferred relationship Some 6
    Ostium primum defect Associated morphology False Defekt Inferred relationship Some 6
    Defect of skin of hand Associated morphology False Defekt Inferred relationship Some 1
    Lutembacher's syndrome Associated morphology False Defekt Inferred relationship Some 6
    Acquired defect of skull (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Repair of spondylolysis using hook screw (procedure) Direct morphology False Defekt Inferred relationship Some 2
    Perinatal skull defect Associated morphology False Defekt Inferred relationship Some 1
    Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology False Defekt Inferred relationship Some 5
    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. Associated morphology False Defekt Inferred relationship Some 8
    Detachment of right retina co-occurrent with retinal defect Associated morphology False Defekt Inferred relationship Some 2
    Defect of retina of right eye Associated morphology False Defekt Inferred relationship Some 1
    Visual field defect of left eye (finding) Associated morphology False Defekt Inferred relationship Some 1
    Defect of retina of bilateral eyes Associated morphology False Defekt Inferred relationship Some 2
    Defect of retina of bilateral eyes Associated morphology False Defekt Inferred relationship Some 3
    Defect of retina of left eye Associated morphology False Defekt Inferred relationship Some 1
    Horseshoe tear of retina of left eye without detachment (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Horseshoe tear of retina of right eye without detachment (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Round hole of retina of bilateral eyes (disorder) Associated morphology False Defekt Inferred relationship Some 2
    Round hole of retina of bilateral eyes (disorder) Associated morphology False Defekt Inferred relationship Some 3
    Round hole of retina of left eye (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Round hole of retina of right eye (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Post-infarction ventricular septal defect Associated morphology False Defekt Inferred relationship Some 2
    Detachment of left retina co-occurrent with retinal defect Associated morphology False Defekt Inferred relationship Some 3
    Acquired atrial septal defect (disorder) Associated morphology False Defekt Inferred relationship Some 1
    An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. Associated morphology False Defekt Inferred relationship Some 3
    Defect of vertebral endplate (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Residual interatrial communication following procedure (disorder) Associated morphology False Defekt Inferred relationship Some 2
    Recurrent interatrial communication following procedure (disorder) Associated morphology False Defekt Inferred relationship Some 2
    Ventricular septal defect following procedure (disorder) Associated morphology False Defekt Inferred relationship Some 2
    Visual field defect of right eye (finding) Associated morphology False Defekt Inferred relationship Some 1
    Acquired ventricular septal defect (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Pericarditis associated with atrial septal defect Associated morphology False Defekt Inferred relationship Some 3
    Kartagener syndrome Associated morphology False Defekt Inferred relationship Some 6
    Cystic fibrosis without meconium ileus Associated morphology False Defekt Inferred relationship Some 2
    Cystic fibrosis with meconium ileus Associated morphology False Defekt Inferred relationship Some 2
    Immotile cilia syndrome Associated morphology False Defekt Inferred relationship Some 2
    Cystic fibrosis of the lung Associated morphology False Defekt Inferred relationship Some 1
    Cystic fibrosis Associated morphology False Defekt Inferred relationship Some 2
    Mucociliary clearance defect Associated morphology False Defekt Inferred relationship Some 2
    Inherited mucociliary clearance defect Associated morphology False Defekt Inferred relationship Some 2
    Primary ciliary dyskinesia due to transposition of ciliary microtubules Associated morphology False Defekt Inferred relationship Some 2
    Immotile cilia syndrome due to defective radial spokes Associated morphology False Defekt Inferred relationship Some 2
    Immotile cilia syndrome due to excessively long cilia Associated morphology False Defekt Inferred relationship Some 2
    Young's syndrome Associated morphology False Defekt Inferred relationship Some 2
    Rutland ciliary disorientation syndrome Associated morphology False Defekt Inferred relationship Some 2
    Acquired mucociliary clearance defect Associated morphology False Defekt Inferred relationship Some 2
    Secondary ciliary dyskinesia Associated morphology False Defekt Inferred relationship Some 2
    Transient mucociliary clearance defect Associated morphology False Defekt Inferred relationship Some 1
    Cystic fibrosis of pancreas Associated morphology False Defekt Inferred relationship Some 1
    diabetes mellitus associeret med cystisk fibrose Associated morphology False Defekt Inferred relationship Some 1
    Exocrine pancreatic manifestation co-occurrent and due to cystic fibrosis (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Associated morphology False Defekt Inferred relationship Some 4
    Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. Associated morphology False Defekt Inferred relationship Some 1
    Fetal cystic fibrosis (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Cystisk fibrose med tarmmanifestationer Associated morphology False Defekt Inferred relationship Some 3
    A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. Associated morphology False Defekt Inferred relationship Some 1
    Classical cystic fibrosis (disorder) Associated morphology False Defekt Inferred relationship Some 3
    Atypical cystic fibrosis (disorder) Associated morphology False Defekt Inferred relationship Some 3
    Subclinical cystic fibrosis Associated morphology False Defekt Inferred relationship Some 3
    Eisenmenger's syndrome (disorder) Associated morphology False Defekt Inferred relationship Some 2
    Acquired cardiac septal defect (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Congenital septal defect of heart Associated morphology False Defekt Inferred relationship Some 1
    Ventricular septal defect due to and following infective endocarditis (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Ventricular septal defect following procedure (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Developmental failure of fusion (morphologic abnormality) Is a False Defekt Inferred relationship Some
    Interatrial communication through coronary sinus orifice (disorder) Associated morphology False Defekt Inferred relationship Some 2
    Atrial septal defect with endocardial cushion defect, partial type Associated morphology False Defekt Inferred relationship Some 1
    Restrictive interatrial communication with obligatory shunt (disorder) Associated morphology False Defekt Inferred relationship Some 1
    An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. Associated morphology False Defekt Inferred relationship Some 1
    The more common indirect type of communication where the flow of blood is from the left ventricle through a ventricular septal defect into the right ventricle and then through a defect in the tricuspid valve into the right atrium. Associated morphology False Defekt Inferred relationship Some 2
    Multiple intracardiac shunts Associated morphology False Defekt Inferred relationship Some 1
    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. Associated morphology False Defekt Inferred relationship Some 4
    Congenital tracheocele Associated morphology False Defekt Inferred relationship Some 2
    Acquired spondylolysis of lumbosacral spine Associated morphology False Defekt Inferred relationship Some 1
    Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. Associated morphology False Defekt Inferred relationship Some 2
    A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Associated morphology False Defekt Inferred relationship Some 2
    Genetic defect of hair shaft (disorder) Associated morphology False Defekt Inferred relationship Some 1
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Defekt Inferred relationship Some 2
    Clastothrix Associated morphology False Defekt Inferred relationship Some 2
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False Defekt Inferred relationship Some 2
    Spinalt hydromeningocele Associated morphology False Defekt Inferred relationship Some 3
    Multiple defects of bilateral retinas without detachment Associated morphology False Defekt Inferred relationship Some 2
    Multiple defects of bilateral retinas without detachment Associated morphology False Defekt Inferred relationship Some 1
    Multiple defects of retina of right eye without detachment Associated morphology False Defekt Inferred relationship Some 1
    Multiple defects of retina of left eye without detachment Associated morphology False Defekt Inferred relationship Some 1
    Bilateral visual defect of eyes Associated morphology False Defekt Inferred relationship Some 1
    Bilateral visual defect of eyes Associated morphology False Defekt Inferred relationship Some 2
    Acquired spondylolysis of lumbar spine (disorder) Associated morphology False Defekt Inferred relationship Some 1
    Reconstruction of defect of maxilla with skin graft Procedure morphology (attribute) False Defekt Inferred relationship Some 1
    Peripheral visual field defect of bilateral eyes (finding) Associated morphology False Defekt Inferred relationship Some 1
    Peripheral visual field defect of bilateral eyes (finding) Associated morphology False Defekt Inferred relationship Some 2
    Peripheral visual field defect of left eye (finding) Associated morphology False Defekt Inferred relationship Some 1
    Peripheral visual field defect of right eye (finding) Associated morphology False Defekt Inferred relationship Some 1

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