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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    561791000077117 anomalie congénitale (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    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 est un(e) (attribut) structure anormale sur le plan morphologique false Inferred relationship Some
    Congenital anomaly est un(e) (attribut) Developmental abnormality false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital anomaly of respiratory system morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified lung agenesis, hypoplasia or dysplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Double inlet left ventricle morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Left sided atrium connecting to both ventricles morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified endocrine gland anomaly morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of scapula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital enlarged kidney morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of maxilla morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Interrupted aortic arch between left subclavian and left common carotid artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of penis NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Double inlet right ventricle morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Juvenile pelvis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Spina bifida NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lower respiratory system morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Sjögren-Larsson syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 2 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    anomalie du chromosome 12 (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Faun tail syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    anomalie du chromosome 22 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    coeur croisé morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Papyraceous fetus - not delivered morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital generalized flexion contractures of lower limb joints morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of exoccipital bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Defect of telencephalic division morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of breast morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lung agenesis, hypoplasia or dysplasia NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    prépuce redondant morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Triphalangeal great toe morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital heart anomaly NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Abnormal relationship of right ventricle to left ventricle morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of metatarsal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Digestive system anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Female Kallman's syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Bilateral deficient infundibula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Agenesis of bronchus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Palmar pitting due to Darier disease morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of external ear morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Failure of differentiation of bones of lower limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of corpus callosum morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 4 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Nail dystrophy due to Darier's disease (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group A morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Reduction anomaly of hypothalamus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of alisphenoid bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital thread-like tail morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of caudal vertebra morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Specified anomalies of choroid morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Trisomy 11 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Interrupted aortic arch distal to left subclavian artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Triploidy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Nervous system anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of rib morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of frontal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital renal failure morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of relationship of cardiac component morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Uterus subseptus (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomaly of great veins, unspecified morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital absence of liver and/or gallbladder (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Abnormal atrioventricular connection - univentricular morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of metacarpal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Trisomy 10 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Wolffian duct cyst - female morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    20p partial trisomy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Agyria morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Abnormal relationship of aortic orifice to pulmonary orifice morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of ureter morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other dwarfing syndromes NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 10 syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Other congenital upper alimentary tract anomalies morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant familial woolly hair morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of hair morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital flexion contracture of knee morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Neuroenteric cyst and associated malformation morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    kyste de la fente branchiale (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Ectopic liver morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital nuclear ophthalmoplegia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of rectum morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Euryblepharon (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Trisomy 22 morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Unspecified nervous system anomaly NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    19q partial trisomy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital vesicoureterorenal reflux (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Multiple pterygium syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    maladie de von Hippel-Lindau (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital laryngeal adductor palsy morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital disorders of eye and eyelid movements morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of frontal bone morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Humeroradial synostosis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Uterus biforis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of the great veins, NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital focal enlargement of rib morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pancreatic duct anomaly morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    16p partial trisomy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Indeterminate ventricular outflow tract obstruction morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Single tooth microdontia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lacrimal passages NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Interrupted aortic arch between left common carotid and brachiocephalic artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1

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    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    GB English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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