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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
    Lack of ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    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
    Lack of ossification of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lack of ossification of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Incomplete ossification of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of back Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of back Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of body cavity Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of body cavity Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of body wall Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of body wall Associated morphology False Congenital anomaly Inferred relationship Some 1
    Maldescent of testis, bilateral Associated morphology False Congenital anomaly Inferred relationship Some 2
    Maldescent of testis, bilateral Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral maldescent of testis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral maldescent of testis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Segmental neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Segmental neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other congenital anomalies of upper leg Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of upper leg Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital sacrococcygeal anomalies NEC Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital sacrococcygeal anomalies NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other phakomatoses, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other phakomatoses, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 3
    Optic disc structural anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Optic disc structural anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Jervell and Lange-Nielsen syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Jervell and Lange-Nielsen syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mouth Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of mouth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rachischisis with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Rachischisis with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 5
    Rachischisis with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hydromyelocele with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 6
    Hydromyelocele with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 8
    Congenital sequestration Is a False Congenital anomaly Inferred relationship Some
    Pharyngeal pituitary tissue Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pharyngeal pituitary tissue Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital pectus excavatum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital pectus excavatum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital atresia of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital absence of eustachian tube Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of eustachian tube Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital absence of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of mouth Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of mouth Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormal fusion of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormal fusion of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracoceloschisis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracoceloschisis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Secondary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Secondary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bronchus picus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bronchus picus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microstomia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microstomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of pleural folds Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pleural folds Associated morphology False Congenital anomaly Inferred relationship Some 2
    Persistent tunica vasculosa lentis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Persistent tunica vasculosa lentis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other specified anomalies of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified anomalies of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diaphragm anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diaphragm anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis 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 1
    Multiple café-au-lait macules due to neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multiple neurofibromas in neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple neurofibromas in neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Elephantiasis neurofibromatosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Elephantiasis neurofibromatosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Café-au-lait macules with pulmonary stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with pulmonary stenosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Café-au-lait macules with temporal dysrhythmia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of third eyelid 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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