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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
    Bilateral deficient infundibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cranial hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital cerebral meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Freemartin Associated morphology False Congenital anomaly Inferred relationship Some 2
    Infundibular pulmonic stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pigmentation Is a False Congenital anomaly Inferred relationship Some
    Congenital septation Is a False Congenital anomaly Inferred relationship Some
    Fistula of coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epispadias Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male epispadias Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male epispadias Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalous pulmonary venous drainage Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital blocked tear duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    XTE syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral congenital macrostomia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous termination of right pulmonary vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pure gonadal dysgenesis 46,XX Associated morphology False Congenital anomaly Inferred relationship Some 2
    Oromandibular-limb hypogenesis spectrum Associated morphology False Congenital anomaly Inferred relationship Some 3
    Neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of fallopian tube and broad ligament Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neurofibromatosis type 2 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Segmental neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tricuspid leaflet dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diaphragm anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unilateral maldescent of testis Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epiblepharon Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lingual thyroid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Potter's facies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of jaw Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital tracheo-oesophageal cleft Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other tongue anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Male epispadias Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified congenital anomaly of lacrimal passages Associated morphology False Congenital anomaly Inferred relationship Some 2
    Commissural fusion of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ash leaf spot, tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypertelorism Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Systemic to pulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Double orifice of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Accessory tissue on mitral leaflet Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bifid epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Fibrous skin tumour of tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of lower alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 2
    Facial asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypopigmentation of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalous pulmonary venous drainage to coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Residual cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital leptomeningeal angiomatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 2
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 3
    Overriding tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of ocular adnexa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undescended testes - bilateral Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 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 lymphoedema 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 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 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 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multiple café-au-lait macules due to neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 2

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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