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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Annular pancreas Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mongolian spot Associated morphology False anomalie congénitale Inferred relationship Some
    Supernumerary tooth (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of forearm with hand AND fingers Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pseudocryptorchism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hepatomegaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Nevus anemicus Associated morphology False anomalie congénitale Inferred relationship Some
    Langer-Giedion syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital esophagobronchial fistula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Macrodactyly of toe (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Uterus acollis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Disseminated superficial actinic porokeratosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Glycogen storage disease type VIII Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of genital organ Associated morphology False anomalie congénitale Inferred relationship Some 1
    Paraumbilical hernia with gangrene AND obstruction Associated morphology False anomalie congénitale Inferred relationship Some 9
    Congenital varus deformity of foot Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cochleate uterus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Eruption cyst of jaw (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Oto-palato-digital syndrome, type II Associated morphology False anomalie congénitale Inferred relationship Some 3
    Xeroderma pigmentosum, group F Associated morphology False anomalie congénitale Inferred relationship Some 1
    Islet cell hyperplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Central core disease Associated morphology False anomalie congénitale Inferred relationship Some 2
    Sarcotubular myopathy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False anomalie congénitale Inferred relationship Some 1
    épidermolyse bulleuse dystrophique évolutive autosomique récessive Associated morphology False anomalie congénitale Inferred relationship Some 1
    Brachydactyly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Xeroderma pigmentosum, group A Associated morphology False anomalie congénitale Inferred relationship Some 1
    Calculus of bile duct with acute cholecystitis with obstruction Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of male genital system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology False anomalie congénitale Inferred relationship Some 2
    Dubin-Johnson syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma pigmentosum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Keratoderma punctata Associated morphology False anomalie congénitale Inferred relationship Some 1
    syndrome de Moynahan Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital cardiospasm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ruvalcaba-Myhre syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False anomalie congénitale Inferred relationship Some 2
    Calculus of bile duct with obstruction Associated morphology False anomalie congénitale Inferred relationship Some 2
    Von Hippel-Lindau syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Female infertility due to structural congenital anomaly of vagina Associated morphology False anomalie congénitale Inferred relationship Some 1
    Severe X-linked myotubular myopathy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of pancreas Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital duplication of gallbladder Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hiatus hernia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of bile ducts Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital leukonychia Associated morphology False anomalie congénitale Inferred relationship Some 1
    raccourcissement congénital d'une jambe Associated morphology False anomalie congénitale Inferred relationship Some 1
    Naso-palatine duct cyst Associated morphology False anomalie congénitale Inferred relationship Some 1
    Acrocephaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Meckel's diverticulitis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Closure of cleft hand Direct morphology False anomalie congénitale Inferred relationship Some 2
    Metatarsus varus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Recessive dystrophic epidermolysis bullosa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Nevus of Ito Associated morphology False anomalie congénitale Inferred relationship Some
    Darier disease Associated morphology False anomalie congénitale Inferred relationship Some 2
    17 alpha-Hydroxyprogesterone aldolase deficiency Associated morphology False anomalie congénitale Inferred relationship Some 3
    Umbilical hernia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Angioma serpiginosum Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of gallbladder Associated morphology False anomalie congénitale Inferred relationship Some 1
    Calculus of common bile duct Associated morphology False anomalie congénitale Inferred relationship Some 1
    FG syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital organoaxial volvulus of stomach Associated morphology False anomalie congénitale Inferred relationship Some 1
    Removal of supernumerary toe Direct morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of skull Associated morphology False anomalie congénitale Inferred relationship Some 1
    Akabane virus disease Associated morphology False anomalie congénitale Inferred relationship Some
    Universal mesentery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Linear sebaceous nevus sequence Associated morphology False anomalie congénitale Inferred relationship Some
    Fetal myelomeningocele causing disproportion (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of vagina Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital gastric perforation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Vascular compression of esophagus by aberrant artery Associated morphology False anomalie congénitale Inferred relationship Some 3
    Brunner's gland adenoma Associated morphology False anomalie congénitale Inferred relationship Some 2
    Peutz-Jeghers polyps of small bowel Associated morphology False anomalie congénitale Inferred relationship Some 4
    Uterus subseptus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pigmented hairy epidermal nevus Associated morphology False anomalie congénitale Inferred relationship Some
    Oto-palato-digital syndrome, type I Associated morphology False anomalie congénitale Inferred relationship Some 3
    Hidrotic ectodermal dysplasia syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Ichthyosis linearis circumflexa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Peutz-Jeghers syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    Pancreas divisum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Uterus biforis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Straight back syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital muscular hypertrophy-cerebral syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Multi-core congenital myopathy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of small intestine Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reconstruction of cleft foot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Associated morphology False anomalie congénitale Inferred relationship Some 3
    Anomalous origin of left circumflex artery from right coronary artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of testis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Complete phocomelia of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma pigmentosum, group E Associated morphology False anomalie congénitale Inferred relationship Some 1
    Facioscapulohumeral muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some
    Leydig cell agenesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    raccourcissement congénital d'un bras Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fibrous hamartoma of infancy Associated morphology False anomalie congénitale Inferred relationship Some
    Nevus lipomatosus cutaneous superficialis Associated morphology False anomalie congénitale Inferred relationship Some

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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