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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848101000005119 kongenit anomali 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
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Kamptodaktyli – anden eller multipel Associated morphology False kongenit anomali Inferred relationship Some 1
    Underudvikling af tommelfinger Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of endocrine gland Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital ectodermal defect Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of arch of thoracic vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    tungeanomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 9 Associated morphology False kongenit anomali Inferred relationship Some
    Anden kongenit hudanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 1
    Megacalycosis Associated morphology False kongenit anomali Inferred relationship Some 2
    kongenitte anomalier af øjenlåg, tåreapparatet og orbita, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Release of syndactyly of toes Direct morphology False kongenit anomali Inferred relationship Some 2
    Congenital heart disease in pregnancy Associated morphology False kongenit anomali Inferred relationship Some 1
    situs inversus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Dentinogenesis imperfecta - Shield's type II Associated morphology False kongenit anomali Inferred relationship Some 1
    Right atrial appendage - left - juxtaposition Associated morphology False kongenit anomali Inferred relationship Some 1
    andre trisomi C-syndromer Associated morphology False kongenit anomali Inferred relationship Some
    Congenital micrognathism Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital nephrotic syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypertrichosis lanuginosa (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Cervical auricle Associated morphology False kongenit anomali Inferred relationship Some 1
    XY females Associated morphology False kongenit anomali Inferred relationship Some
    Komplet trisomi 10-syndrom Associated morphology False kongenit anomali Inferred relationship Some
    Uspecificerede tilstande forårsaget af autosomale anomalier Associated morphology False kongenit anomali Inferred relationship Some
    Congenital claw foot Associated morphology False kongenit anomali Inferred relationship Some 1
    korrektion af kongenit deformitet af hånd, ikke nærmere specificeret Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of upper alimentary tract Associated morphology False kongenit anomali Inferred relationship Some 1
    Circumflex runs posterior to aorta Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of supraoccipital bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Hereditary erythrokeratolysis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital atresia of osseous meatus of middle ear Associated morphology False kongenit anomali Inferred relationship Some 2
    Rudimentary tracheal bronchus Associated morphology False kongenit anomali Inferred relationship Some 3
    Urogenitale anomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital pseudoporencephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Rotated penis Associated morphology False kongenit anomali Inferred relationship Some 1
    Tilted optic disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Balanced autosomal rearrangement in abnormal individual Associated morphology False kongenit anomali Inferred relationship Some
    Congenital hypertrichosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Triploidy, diploidy, mixoploidy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Congenital undergrowth of partial lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Chimera Associated morphology False kongenit anomali Inferred relationship Some
    Duplication of whole limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital atresia of epiglottis Associated morphology False kongenit anomali Inferred relationship Some 2
    anden kongenit anomali af perifere karsystem, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Intrauterin amputation af overekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    Isolation of branch of aortic arch (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of duodenum Associated morphology False kongenit anomali Inferred relationship Some 1
    Atrioventricular septal defect - ventricular component under inferior bridging leaflet (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Øjenlåg med vaskulære anomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of head Associated morphology False kongenit anomali Inferred relationship Some 1
    atresi af larynx eller trachea, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Myotubular myopathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of fibula Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of fetal head bones Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosis bullosa of Siemens Associated morphology False kongenit anomali Inferred relationship Some 1
    3q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Male with structurally abnormal sex chromosome Associated morphology False kongenit anomali Inferred relationship Some
    Common arterial trunk and widely separate origin of pulmonary arteries (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret spina bifida uden hydrocefalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome, XY/XXY mosaic Associated morphology False kongenit anomali Inferred relationship Some
    Hypoplasia of right heart Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of retina Associated morphology False kongenit anomali Inferred relationship Some 1
    Prognati, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Intrinsic enamel discoloration of erythroblastosis fetalis Associated morphology False kongenit anomali Inferred relationship Some 1
    veneanomali, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Nevus comedonicus Associated morphology False kongenit anomali Inferred relationship Some 1
    Right ventricular outflow obstruction - localized Associated morphology False kongenit anomali Inferred relationship Some 1
    andre anomalier i costae og sternum Associated morphology False kongenit anomali Inferred relationship Some 1
    Transverse arrest metacarpal second to fifth rays Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anisocoria Associated morphology False kongenit anomali Inferred relationship Some 1
    Adductor tenotomy for congenital dislocation of hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Hemifacial microsomia Associated morphology False kongenit anomali Inferred relationship Some 1
    Liver hyperplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of spinal cord Associated morphology False kongenit anomali Inferred relationship Some 1
    Turco operation Direct morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte anomalier af hel arm Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Malformation of ear with impairment of hearing, unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    trisomi af autosomer, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Incomplete ossification of centrum of sacral vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital ectropion of lip Associated morphology False kongenit anomali Inferred relationship Some 1
    Circumflex runs posterior to pulmonary trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of basioccipital bone Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebral anomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Osteopetrosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    pulmonalklapanomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Diffuse palmoplantar keratoderma of Thost-Unna (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    renal agenesi eller dysgenese, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of aorta Associated morphology False kongenit anomali Inferred relationship Some 1
    anomalier af glandula parathyroidea, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Individual with marker heterochromatin Associated morphology False kongenit anomali Inferred relationship Some
    andre specificerede reduktionsdeformiteter af hjernen Associated morphology False kongenit anomali Inferred relationship Some 1
    litopædion Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nail Associated morphology False kongenit anomali Inferred relationship Some 1
    Interfrontal craniofaciosynostosis Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. Associated morphology False kongenit anomali Inferred relationship Some
    Frontoparietal kraniofaciosynostose Associated morphology False kongenit anomali Inferred relationship Some 1

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