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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
    Mondini defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomalies of lumbar vertebrae NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Liver anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acroerythrokeratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Giant right atrium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of chest wall Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bipartite ossification of centrum of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified nail anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cyanotic congenital heart disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypothyroidism with ectopic thyroid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 6 Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital bowing of long leg bone, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Female with more than three X chromosomes Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 1
    High anorectal malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naso-palatine duct cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mirror hands Associated morphology False Congenital anomaly Inferred relationship Some 1
    Corrected transposition of great vessels Associated morphology False Congenital anomaly Inferred relationship Some 2
    Localised microdontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate urinary meatus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other bladder or urethral anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Liver and biliary system anomalies, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cyclops Associated morphology False Congenital anomaly Inferred relationship Some 1
    Closure of cleft foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Ulnar and humeroulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida aperta Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of scrotum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bipartite ossification of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Glycogen storage disease, type I Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spleen Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cryptophthalmos Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circulatory system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    9q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Dentinogenesis imperfecta - Shield's type III Associated morphology False Congenital anomaly Inferred relationship Some 1
    Robert's pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of abdomen Associated morphology False Congenital anomaly Inferred relationship Some 1
    Focal dermal hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Impervious urethra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringomyelia and syringobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary endocardial fibroelastosis of right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of endocrine ovary Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Combined malformation of central nervous system and skeletal muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of broad ligament Associated morphology False Congenital anomaly Inferred relationship Some 1
    Synophrys Associated morphology False Congenital anomaly Inferred relationship Some 1
    Metatarsal osteotomy for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Right atrial hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Renal pelvis and ureter obstructive defects Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 18 Associated morphology False Congenital anomaly Inferred relationship Some
    [X]Congenital malformation of tricuspid valve, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spermatic cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aortic arch centrally descending Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuronal intestinal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Porokeratosis of Mantoux Associated morphology False Congenital anomaly Inferred relationship Some 1
    McCauley operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of arch of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified nervous system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pelvis justo major Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital genu recurvatum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pulmonary valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified congenital anomalies of posterior segment Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posterior chamber vascular anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Barkan membrane Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft external sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diffuse hypoplasia of left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vitreous humour Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus, site unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Cerebrovascular system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Foramen ovale valvar aneurysm Associated morphology False Congenital anomaly Inferred relationship Some 2
    Uterus bicameratus vetularum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of cerebrum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Harlequin ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undergrowth of whole upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline deviation of dental arch Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of finger Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome, XXYY Associated morphology False Congenital anomaly Inferred relationship Some
    High assimilation pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbosacral prespondylolisthesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fetal aminopterin syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    2p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of uterus affecting obstetric care Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of posterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal fusion of hindpaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalies of spine NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced autosomal translocation Associated morphology False Congenital anomaly Inferred relationship Some
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete trisomy 9 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital spine deformity NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified anomaly of sclera NOS Associated morphology False Congenital anomaly Inferred relationship Some 1

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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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