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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 pectus excavatum (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital atresia of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital atresia of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Persistent tuberculum impar Associated morphology False Congenital anomaly Inferred relationship Some 3
    Persistent tuberculum impar Associated morphology False Congenital anomaly Inferred relationship Some 4
    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 3
    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 2
    Congenital abnormal fusion of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 3
    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 3
    Thoracoceloschisis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracoceloschisis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital malformation of trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary congenital bronchomalacia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary congenital bronchomalacia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Secondary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Secondary congenital bronchomalacia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Bronchus picus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bronchus picus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Microstomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Microstomia Associated morphology False Congenital anomaly Inferred relationship Some 3
    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 2
    Persistent tunica vasculosa lentis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital leptomeningeal angiomatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital leptomeningeal angiomatosis Associated morphology False Congenital anomaly Inferred relationship Some 4
    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 1
    Other specified anomalies of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 1
    [X]Other congenital malformations of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 2
    Axillary freckling due to neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Elephantiasis neurofibromatosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Elephantiasis neurofibromatosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Café-au-lait macules with pulmonary stenosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with pulmonary stenosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    familiaire multipele café-au-laitvlekken zonder neurofibromatose Associated morphology False Congenital anomaly Inferred relationship Some 1
    familiaire multipele café-au-laitvlekken zonder neurofibromatose Associated morphology False Congenital anomaly Inferred relationship Some 3
    Periungual fibroma in tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Periungual fibroma in tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypertelorism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypertelorism Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Systemic to pulmonary collateral artery (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Systemic to pulmonary collateral artery (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 4
    Bifid epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bifid epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypopigmentation of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypopigmentation of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 3
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 2
    Closed ductus venosus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Closed ductus venosus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bronchopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bronchopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bronchopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Some 2
    Collaterals to pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Collaterals to pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 2
    Solitary aortic trunk with pulmonary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Solitary aortic trunk with pulmonary atresia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Blepharophimosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Blepharophimosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Major aortopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Major aortopulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abnormal connection of hepatic vein to atrium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal connection of hepatic vein to atrium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Coronary sinus to left ventricle fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coronary sinus to left ventricle fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Solitary pulmonary trunk with aortic atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Solitary pulmonary trunk with aortic atresia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of jaw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of jaw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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