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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    561791000077117 anomalie congénitale (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    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 est un(e) (attribut) structure anormale sur le plan morphologique false Inferred relationship Some
    Congenital anomaly est un(e) (attribut) Developmental abnormality false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Complete trisomy 10 syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Unspecified conditions due to autosomal anomalies morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital claw foot morphologie associée (attribut) 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 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Circumflex runs posterior to aorta morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of supraoccipital bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Hereditary erythrokeratolysis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of osseous meatus of middle ear morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Rudimentary tracheal bronchus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Genitourinary anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    pseudoporencéphalie congénitale (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Rotated penis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Tilted optic disc morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Balanced autosomal rearrangement in abnormal individual morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital hypertrichosis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Triploidy, diploidy, mixoploidy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital undergrowth of partial lower limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Chimera morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Duplication of whole limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of epiglottis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Other congenital anomaly of peripheral vascular system NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Intrauterine amputation of upper limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Isolation of branch of aortic arch morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of duodenum morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Atrioventricular septal defect - ventricular component under inferior bridging leaflet morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Eyelid vascular anomalies morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of head morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Atresia of larynx or trachea NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Myotubular myopathy morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of fibula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of fetal head bones morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Ichthyosis bullosa of Siemens morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    3q partial trisomy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Male with structurally abnormal sex chromosome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Common arterial trunk and widely separate origin of pulmonary arteries (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified spina bifida without hydrocephalus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome, XY/XXY mosaic morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Hypoplasia of right heart morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of retina (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Prognathism NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Intrinsic enamel discoloration of erythroblastosis fetalis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomaly of vein NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Nevus comedonicus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Right ventricular outflow obstruction - localized morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other rib and sternum anomalies morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Transverse arrest metacarpal second to fifth rays morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida without mention of hydrocephalus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anisocoria (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    ténotomie des adducteurs pour luxation congénitale de la hanche Direct morphology False Congenital anomaly Inferred relationship Some 2
    Hemifacial microsomia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Liver hyperplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spinal cord morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Turco operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of whole arm morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Malformation of ear with impairment of hearing, unspecified morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Trisomy of autosomes NEC NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Incomplete ossification of centrum of sacral vertebra morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital ectropion of lip morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Circumflex runs posterior to pulmonary trunk morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of basioccipital bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomaly of cerebrum NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Osteopetrosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pulmonary valve anomaly, unspecified morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Diffuse palmoplantar keratoderma of Thost-Unna (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Renal agenesis or dysgenesis NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of aorta (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomalies of parathyroid gland NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Individual with marker heterochromatin morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Other specified reduction deformities of brain morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lithopedian morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    anomalie congénitale de l'ongle (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Interfrontal craniofaciosynostosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    syndrome de chromosome 9 en anneau morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Fronto-parietal craniofaciosynostosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Overgrowth of upper limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot with pulmonary atresia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of circulatory system morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Radioulnar dysostosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of adrenal gland morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomalies of adrenal gland NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified sex chromosome anomaly morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Coronary artery anomaly NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Hepatic methionine adenosyltransferase deficiency (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    syndrome de Dubin-Johnson morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of heart valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of parietal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Bicornuate uterus complicating postpartum care - baby delivered during previous episode of care morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Left atrial hypoplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, autosomal recessive (disorder) morphologie associée (attribut) 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 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    False tendon - heart morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Alacrima morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Reniform pelvis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pulmonary artery anomaly NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of talus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1

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    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    GB English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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