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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Camptodactyly-other or multiple Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undergrowth of the thumb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of endocrine gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital ectodermal defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of arch of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of tongue, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 9 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Other congenital skin anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 1
    Megacalycosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Eyelid, lacrimal system and orbit congenital anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Release of syndactyly of toes Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital heart disease in pregnancy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Situs inversus NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dentinogenesis imperfecta - Shield's type II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right atrial appendage - left - juxtaposition Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other trisomy C syndromes Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital micrognathism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital nephrotic syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypertrichosis lanuginosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical auricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    XY females Associated morphology False Congenital anomaly Inferred relationship Some
    Complete trisomy 10 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital claw foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hand NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of upper alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circumflex runs posterior to aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary erythrokeratolysis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of osseous meatus of middle ear Associated morphology False Congenital anomaly Inferred relationship Some 2
    Rudimentary tracheal bronchus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Genitourinary anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pseudoporencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rotated penis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tilted optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced autosomal rearrangement in abnormal individual Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital hypertrichosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Triploidy, diploidy, mixoploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital undergrowth of partial lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chimera Associated morphology False Congenital anomaly Inferred relationship Some
    Duplication of whole limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other congenital anomaly of peripheral vascular system NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Intrauterine amputation of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isolation of branch of aortic arch Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of duodenum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atrioventricular septal defect - ventricular component under inferior bridging leaflet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Eyelid vascular anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of head Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of larynx or trachea NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myotubular myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of fibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of fetal head bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis bullosa of Siemens Associated morphology False Congenital anomaly Inferred relationship Some 1
    3q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Male with structurally abnormal sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Common arterial trunk and widely separate origin of pulmonary arteries (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Congenital anomaly Inferred relationship Some
    Hypoplasia of right heart Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of retina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Prognathism NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Intrinsic enamel discoloration of erythroblastosis fetalis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of vein NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naevus comedonicus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right ventricular outflow obstruction - localized Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other rib and sternum anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse arrest metacarpal second to fifth rays Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anisocoria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Adductor tenotomy for congenital dislocation of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Hemifacial microsomia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Liver hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turco operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of whole arm Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Malformation of ear with impairment of hearing, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy of autosomes NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Incomplete ossification of centrum of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ectropion of lip Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circumflex runs posterior to pulmonary trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of basioccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of cerebrum NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Osteopetrosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary valve anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diffuse palmoplantar keratoderma of Thost-Unna (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Renal agenesis or dysgenesis NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of parathyroid gland NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Individual with marker heterochromatin Associated morphology False Congenital anomaly Inferred relationship Some
    Other specified reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lithopedian Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Interfrontal craniofaciosynostosis Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1

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