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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 (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cervical spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    [X]Other congenital malformations of lower limb(s), including pelvic girdle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Shagreen patch Associated morphology False Congenital anomaly Inferred relationship Some 2
    Secondary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cryptophthalmos (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tricuspid atresia and stenosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Straddling tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bronchus picus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Closed ductus venosus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bronchopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lateral developmental cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalous pulmonary venous drainage to hepatic veins Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring of lower limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Collaterals to pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 2
    Solitary aortic trunk with pulmonary atresia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lumbar spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Fallopian tube and broad ligament anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital mitral stenosis, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hemifacial microsomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lack of ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lack of ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lutembacher's anomaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital tarsal kink (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duplication of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Blepharophimosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent tunica vasculosa lentis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Parachute malformation of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other lower limb and pelvic girdle anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Imperforate lacrimal punctum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of germinal epithelium of testes Associated morphology False Congenital anomaly Inferred relationship Some 3
    Euryblepharon (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abnormal connection of hepatic vein to atrium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Embryonic cyst of fallopian tube or broad ligament NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Coronary sinus to left ventricle fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Solitary pulmonary trunk with aortic atresia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cleft leaflet of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Constriction ring syndrome of lower limb with amputation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duplication of the whole foot (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral craniofacial microsomia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lower limb anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital conjunctival cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of pulmonary veins Associated morphology False Congenital anomaly Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False Congenital anomaly Inferred relationship Some 1
    Periungual fibroma in tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Distal origin of brachiocephalic trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral superior vena cava 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 undergrowth of partial lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Some 4
    Abnormal number of aortic valve cusps Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital disease and abnormality of heart, thoracic aorta and pericardium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital disease and abnormality of heart, thoracic aorta and pericardium Associated morphology False Congenital anomaly Inferred relationship Some 3
    Neurofibromatosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Failure of differentiation of bones of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Von Hippel-Lindau syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of jaw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sacral spina bifida with hydrocephalus - closed (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital myogenic ptosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fused commissures of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fallopian tube or broad ligament anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 4
    Hypoplasia of eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of the pulmonary veins, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral congenital macrostomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dilatation of mitral annulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracolumbar spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malposition of innominate artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lack of ossification of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other specified congenital eyelid anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital systemic venous atrium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neurofibromatosis type 3 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 4
    Other specified anomalies of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Maldescent of testis, bilateral Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ball and socket ankle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital macrostomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ebstein-like downward displacement of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse deficiency of toe Associated morphology False Congenital anomaly Inferred relationship Some 3
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Obstructed pulmonary venous connection Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital dysgenetic ptosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Absent tricuspid leaflet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cartilage anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital cartilage anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 3
    Tricuspid annulus hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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