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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
    kératose folliculaire de Darier morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Umbilical hernia (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    angiome serpigineux morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital anomaly of gallbladder (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Calculus of common bile duct morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    FG syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital organoaxial volvulus of stomach (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Removal of supernumerary toe (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 2
    anomalie congénitale du crâne (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Akabane virus disease (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Universal mesentery (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Linear sebaceous naevus sequence morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Fetal disproportion due to fetal myelomeningocele morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Oral-facial-digital syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of vagina (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital gastric perforation (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Vascular compression of oesophagus by aberrant artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Brunner's gland adenoma (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Peutz-Jeghers polyps of small bowel (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    Uterus subseptus (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital junctional epidermolysis bullosa-pyloric atresia syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pigmented hairy epidermal nevus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    syndrome oto-palato-digital type 1 (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Hidrotic ectodermal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Ichthyosis linearis circumflexa (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    lentiginose périorificielle avec polypose viscérale morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Pancreas divisum (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Uterus biforis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Straight back syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital muscular hypertrophy-cerebral syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Multi-core congenital myopathy (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of small intestine (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Reconstruction of cleft foot (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 2
    Vascular compression of oesophagus by aberrant right subclavian artery arising from descending aorta morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Anomalous origin of left circumflex artery from right coronary artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of testis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Complete phocomelia of lower limb (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group E (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Facioscapulohumeral muscular dystrophy (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Leydig cell agenesis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    raccourcissement congénital d'un bras morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Fibrous hamartoma of infancy (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Nevus lipomatosus cutaneous superficialis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital anomaly of subcutaneous tissue (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital hypertrichosis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Uterus bicornis unicollis (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    syndrome de craniosynostose (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spleen (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Hepatic methionine adenosyltransferase deficiency (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    syndrome des hamartomes multiples (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital duplication of cervix (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    spina bifida aperta morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Reifenstein syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    dystrophie musculaire distale morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of female genital system (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, autosomal recessive (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital fusion of sacroiliac joint morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    manus plana morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    calcul dans un canal biliaire avec cholécystite aiguë sans obstruction morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant epidermolysis bullosa simplex morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital anomaly of stomach morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Glycogen storage disease, hepatic form morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Calculus of hepatic duct with obstruction morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital esophagotracheal fistula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Epidermolysis bullosa morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Ectopic intestinal mucosa morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of knee joint morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Jarcho-Levin syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Glycogenosis with glucoaminophosphaturia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Rachischisis morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital hourglass stomach morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Familial arthrogryposis-cholestatic hepatorenal syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Removal of supernumerary digit Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of vas deferens morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital rectovestibular fistula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    Congenital rectovestibular fistula morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Dewebbing of syndactyly of fingers Direct morphology False Congenital anomaly Inferred relationship Some 2
    Larsen syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Brachydactyly syndrome type E morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Embryonic fimbrial cyst morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Tsuge operation on finger for macrodactyly repair Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of hair morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vulva morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vulva morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 4
    Imperforate hymen morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Bayonet hair morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Miller syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital fusion of ribs morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Hyperplasia of pancreatic islet beta cell morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 3
    Congenital absence of toe morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of upper limb morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Popliteal pterygium syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital duplication of esophagus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pyloric antral atresia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa simplex morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Ectopic pancreas in duodenum morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Umbilical hernia with gangrene morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 7

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    Reference Sets

    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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