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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
    Cervical spina bifida with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    [X]Other congenital malformations of lower limb(s), including pelvic girdle Associated morphology False kongenit anomali Inferred relationship Some 2
    Shagreen patch Associated morphology False kongenit anomali Inferred relationship Some 2
    Secondary congenital bronchomalacia (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Cryptophthalmos (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital tricuspid atresia and stenosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Straddling tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 2
    bronchus picus Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of uvula Associated morphology False kongenit anomali Inferred relationship Some 2
    Closed ductus venosus Associated morphology False kongenit anomali Inferred relationship Some 1
    Bronchopulmonary collateral artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Lateral developmental cyst of jaw Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomalous pulmonary venous drainage to hepatic veins Associated morphology False kongenit anomali Inferred relationship Some 2
    Constriction ring of lower limb with lymphedema Associated morphology False kongenit anomali Inferred relationship Some 2
    Tongue tie Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Collaterals to pulmonary arteries Associated morphology False kongenit anomali Inferred relationship Some 2
    Solitary aortic trunk with pulmonary atresia Associated morphology False kongenit anomali Inferred relationship Some 2
    Lumbar spina bifida with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Fallopian tube and broad ligament anomalies (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenit mitralstenose, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Hemifacial microsomia Associated morphology False kongenit anomali Inferred relationship Some 2
    Lack of ossification of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Lack of ossification of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 3
    Lutembachers anomali Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital tarsal kink (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Duplication of tarsal bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Blefarofimosesyndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Persistent tunica vasculosa lentis Associated morphology False kongenit anomali Inferred relationship Some 2
    Thoracic spina bifida with hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 2
    Parachute malformation of tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 2
    andre anomalier af underekstremiteter og bækkenringen Associated morphology False kongenit anomali Inferred relationship Some 2
    Imperforate lacrimal punctum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of germinal epithelium of testes Associated morphology False kongenit anomali Inferred relationship Some 3
    Euryblepharon (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Abnormal connection of hepatic vein to atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Embryonisk cyste på tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Coronary sinus to left ventricle fistula (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Solitary pulmonary trunk with aortic atresia Associated morphology False kongenit anomali Inferred relationship Some 2
    Cleft leaflet of tricuspid valve Associated morphology False kongenit anomali Inferred relationship Some 3
    Constriction ring syndrome of lower limb with amputation Associated morphology False kongenit anomali Inferred relationship Some 2
    Duplication of the whole foot Associated morphology False kongenit anomali Inferred relationship Some 2
    Bilateral craniofacial microsomia Associated morphology False kongenit anomali Inferred relationship Some 2
    underekstremitetsanomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital conjunctival cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of pulmonary veins Associated morphology False kongenit anomali Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False kongenit anomali Inferred relationship Some 1
    Periungual fibroma in tuberous sclerosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Distal origin of brachiocephalic trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    Bilateral superior vena cava (disorder) 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 undergrowth of partial lower limb Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida med hydrocephalus – åben, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 4
    Abnormal number of aortic valve cusps Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Associated morphology False kongenit anomali Inferred relationship Some 3
    kongenit sygdom og abnormitet af hjertet, pars thoracica aortae og perikardiet Associated morphology False kongenit anomali Inferred relationship Some 2
    kongenit sygdom og abnormitet af hjertet, pars thoracica aortae og perikardiet Associated morphology False kongenit anomali Inferred relationship Some 3
    Neurofibromatosis syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Failure of differentiation of bones of lower limb Associated morphology False kongenit anomali Inferred relationship Some 2
    Von Hippel-Lindau syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of premaxilla Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of jaw Associated morphology False kongenit anomali Inferred relationship Some 2
    Sacral spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital myogenic ptosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Fused commissures of mitral valve Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Uspecificeret spina bifida med hydrocephalus – lukket Associated morphology False kongenit anomali Inferred relationship Some 4
    Hypoplasia of eyelid Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali af pulmonalvenerne, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Unilateral kongenit macrostomia Associated morphology False kongenit anomali Inferred relationship Some 2
    Dilation of mitral annulus (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Thoracolumbar spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of mitral valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malposition of innominate artery Associated morphology False kongenit anomali Inferred relationship Some 2
    Lack of ossification of premaxilla Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenit underudvikling af underekstremitet Associated morphology False kongenit anomali Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 3
    andre specificerede kongenitte øjenlågsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital systemic venous atrium Associated morphology False kongenit anomali Inferred relationship Some 2
    Neurofibromatose, type 3 Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida with hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 4
    Andre specificerede anomalier i diaphragma Associated morphology False kongenit anomali Inferred relationship Some 2
    Thoracic spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    bilateral kryptorkisme Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital ball and socket ankle Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital macrostomia Associated morphology False kongenit anomali Inferred relationship Some 2
    Ebstein-like downward displacement of mitral valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital atresia of mitral valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Transverse deficiency of toe Associated morphology False kongenit anomali Inferred relationship Some 3
    Pachydermoperiostosis of nail Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of epiglottis Associated morphology False kongenit anomali Inferred relationship Some 3
    Obstructed pulmonary venous connection Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital dysgenetic ptosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Absent tricuspid leaflet Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cartilage anomaly of third eyelid Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital cartilage anomaly of third eyelid Associated morphology False kongenit anomali Inferred relationship Some 3
    Tricuspid annulus hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

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