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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
    Lobulated tongue Associated morphology False Congenital anomaly Inferred relationship Some 4
    Hamartoma of tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tracheobiliary fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial hypoplastic, glomerulocystic kidney Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cake kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bifid kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital calyceal diverticulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nephronophthisis - medullary cystic disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital obstructive defect of renal pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Megacystis-megaureter syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital gastrointestinal-urinary tract fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital postural curvature of spine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital valvular insufficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent vertical vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aland eye disease and ocular albinism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral renal hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fibrocystic kidney disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital renal failure Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of thoracic aorta and pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transient tricuspid regurgitation of newborn Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital nephritis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital uraemia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hydrocalicosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Venous remnant Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent descending vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital penile torsion Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lissencephaly with cerebellar hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly with cerebellar hypoplasia type B Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly with cerebellar hypoplasia type C Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly with cerebellar hypoplasia type D Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly with cerebellar hypoplasia type F Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly type 1 due to doublecortin gene mutation Associated morphology False Congenital anomaly Inferred relationship Some 3
    GMS syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Isolated lissencephaly type 1 without known genetic defect Associated morphology False Congenital anomaly Inferred relationship Some 3
    Craniotelencephalic dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 3
    X-linked lissencephaly with abnormal genitalia syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Lissencephaly syndrome Norman Roberts type Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lissencephaly type 3 metacarpal bone dysplasia syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Aase Smith type 1 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 14
    Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Associated morphology False Congenital anomaly Inferred relationship Some 3
    X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Associated morphology False Congenital anomaly Inferred relationship Some 7
    Disorder of sex development with intellectual disability syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of the urinary tract proper Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False Congenital anomaly Inferred relationship Some 9
    Congenital agenesis of brainstem nuclei Associated morphology False Congenital anomaly Inferred relationship Some 1
    Carrier of haemochromatosis Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital nystagmus with sensory abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital nystagmus without sensory abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrocephaly, short stature, paraplegia syndrome Associated morphology False Congenital anomaly Inferred relationship Some 9
    Persistent hyperplastic primary vitreous Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of mother complicating pregnancy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microlissencephaly micromelia syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Associated morphology False Congenital anomaly Inferred relationship Some 5
    Gingival cysts of infant Associated morphology False Congenital anomaly Inferred relationship Some 3
    Carrier of chromosome translocation Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of beta thalassaemia Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of haemoglobinopathy C disorder Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of alpha thalassaemia Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of haemoglobinopathy E disorder Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of fragile X chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of high risk cancer mutation gene Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of heritable cancer Associated morphology False Congenital anomaly Inferred relationship Some
    Mesio-occlusion of teeth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anteversion of femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital portal-systemic shunt Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 1 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 2 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mandible Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ocular adnexa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cornea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lens Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital corneal opacity interfering with vision Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete anencephaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Embedded tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of trachea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital phlebectasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dandy-Walker malformation with postaxial polydactyly syndrome Associated morphology False Congenital anomaly Inferred relationship Some 8
    Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology False Congenital anomaly Inferred relationship Some 12
    Atrophia bulborum hereditaria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double kidney AND/OR pelvis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Female Kallman's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital small renal papilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of renal papilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Encephalocele of orbit Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital malformation Is a False Congenital anomaly Inferred relationship Some
    Premature tooth eruption Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital arteriovenous fistula of kidney Associated morphology False Congenital anomaly Inferred relationship Some 5
    Lip hypertrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Carrier of Duchenne muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of Canavan disease Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of haemoglobinopathy disorder Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of familial dysautonomia Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nodular calcific aortic valve stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sturge-Weber syndrome 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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