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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
    Congenital bilateral perisylvian syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Right posterior open bite Associated morphology False Congenital anomaly Inferred relationship Some 6
    Left posterior open bite Associated morphology False Congenital anomaly Inferred relationship Some 6
    Lack of ossification of arch of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital fusion of sacroiliac joint Associated morphology False Congenital anomaly Inferred relationship Some 5
    Vitellointestinal band Associated morphology False Congenital anomaly Inferred relationship Some 4
    Bregeat's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Infantile uterus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cochleate uterus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital vesicoureterorenal reflux, bilateral Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital penile torsion Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) 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 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Goniodysgenesis with intellectual disability and short stature syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Isolated lissencephaly type 1 without known genetic defect (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Craniotelencephalic dysplasia (disorder) 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 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 4
    Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 14
    Lissencephaly due to tubulin alpha 1A mutation (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 7
    Disorder of sex development with intellectual disability syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 9
    Carrier of haemochromatosis Associated morphology False Congenital anomaly Inferred relationship Some
    Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 9
    Congenital anomaly of mother complicating pregnancy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microlissencephaly micromelia syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 5
    Carrier of chromosome translocation (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of beta thalassemia (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of hemoglobinopathy C disorder (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of alpha thalassemia (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of hemoglobinopathy E disorder (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of fragile X chromosome (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of high risk cancer mutation gene (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of heritable cancer (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Dandy-Walker malformation with postaxial polydactyly syndrome Associated morphology False Congenital anomaly Inferred relationship Some 8
    Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 12
    Carrier of Duchenne muscular dystrophy (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of Canavan disease (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of hemoglobinopathy disorder (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of familial dysautonomia (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of muscular dystrophy (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Carrier of von Willebrand disease (finding) Associated morphology False Congenital anomaly Inferred relationship Some
    Pseudovaginal perineoscrotal hypospadias Associated morphology False Congenital anomaly Inferred relationship Some 3
    Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 4

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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