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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive 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 abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    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 anomaly of upper digestive 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 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 discolouration 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 - localised 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 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 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
    Lithopaedian 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
    Ring chromosome 9 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Overgrowth of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot with pulmonary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of circulatory system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Radioulnar dysostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of adrenal gland NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Some
    Coronary artery anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hepatic methionine adenosyltransferase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dubin-Johnson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of heart valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of parietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bicornuate uterus complicating postpartum care - baby delivered during previous episode of care Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left atrial hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, autosomal recessive Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of upper limb congenital ring constriction band Direct morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis vulgaris Associated morphology False Congenital anomaly Inferred relationship Some 1
    False tendon - heart Associated morphology False Congenital anomaly Inferred relationship Some 1
    Alacrima Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reniform pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary artery anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of talus Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

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    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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