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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital bilateral perisylvian syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Right posterior open bite Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6
    Left posterior open bite Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6
    Lack of ossification of arch of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital fusion of sacroiliac joint Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 5
    Vitellointestinal band Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Bregeat's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Infantile uterus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cochleate uterus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital vesicoureterorenal reflux, bilateral Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital penile torsion Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type F Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly type 1 due to doublecortin gene mutation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Goniodysgenesis with intellectual disability and short stature syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Isolated lissencephaly type 1 without known genetic defect Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Craniotelencephalic dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Lissencephaly syndrome Norman Roberts type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Lissencephaly type 3 metacarpal bone dysplasia syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Hydrocephalus with cleft palate and joint contracture syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 14
    Lissencephaly due to tubulin alpha 1A mutation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 7
    Disorder of sex development with intellectual disability syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 9
    Carrier of hemochromatosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Macrocephaly, short stature, paraplegia syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 9
    Congenital anomaly of mother complicating pregnancy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Microlissencephaly micromelia syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 5
    Carrier of chromosome translocation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of beta thalassemia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of hemoglobinopathy C disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of alpha thalassemia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of hemoglobinopathy E disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of fragile X chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of high risk cancer mutation gene Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of heritable cancer Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Dandy-Walker malformation with postaxial polydactyly syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 8
    Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 12
    Carrier of Duchenne muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of Canavan disease Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of hemoglobinopathy disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of familial dysautonomia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Carrier of von Willebrand disease Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Male pseudohermaphroditism due to 5-alpha-reductase deficiency Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Reconstruction of radial club hand Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mid-facial hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Two umbilical vessels Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Myocardial bridge of coronary artery Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial absence of septum pellucidum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Moulded baby syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lujan-Fryns syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital dilated lateral ventricles of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital dilated lateral ventricles of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Moulded baby syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Reconstruction of radial club hand Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital dilated lateral ventricles of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mid-facial hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mid-facial hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormality of mitral papillary muscle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Two chambered right ventricle with ventricular septal defect below obstruction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormality of left atrioventricular valve papillary muscle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other specified congenital anomaly of male genital system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mowat - Wilson syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Maternally inherited deafness Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Muenke syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Muenke syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    [X]Other specified sex chromosome abnormalities, male phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other male with 46,XX karyotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified chromosome abnormalities Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other deletions from the autosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other balanced rearrangements and structural markers Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Balanced rearrangement and structural marker, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other variants of Turner's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Two chambered right ventricle with ventricular septal defect above and below obstruction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    [X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital abnormality of leaflet of mitral valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Carrier of delta-beta thalassaemia disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Mowat - Wilson syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Lujan-Fryns syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Sickle cell gene carrier Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Cystic fibrosis gene carrier Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Antenatal screening shows non significant carrier of sickle cell or thalassaemia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Antenatal screening shows significant carrier of sickle cell or thalassaemia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    [X]Other specified congenital malformations of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    [X]Other congenital cauda equina malformations Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    [X]Other congenital malformations of penis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of iris Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital functional disorders of colon Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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