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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
    Congenital fibre type disproportion myopathy Associated morphology False Congenital anomaly Inferred relationship Some
    Floppy infant syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes equinovarus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anorectal anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Radioulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Marshall syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Adult junctional epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital coxa valga Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dimelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Zebra body myopathy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of upper alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lamellar ichthyosis AND trichorrhexis invaginata syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hanhart's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nager syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal communication between pericardial sac and pleura Associated morphology False Congenital anomaly Inferred relationship Some 4
    Infantile uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naevus comedonicus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fibrous skin tumour of tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group G Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct with cholecystitis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse deficiency of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lethal glossopharyngeal defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hepatomphalocele Associated morphology False Congenital anomaly Inferred relationship Some 5
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital uterine anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Periodontal cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Functional asplenia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital anomaly of ovary Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus arcuatus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital anomaly of appendix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Scapulopexy Direct morphology False Congenital anomaly Inferred relationship Some 3
    Tricho-dento-osseous syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Brachyphalangia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epidermolysis bullosa simplex of the hands and feet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Subungual fibroma Associated morphology False Congenital anomaly Inferred relationship Some
    Redundant prepuce Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital depression in skull Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infantile malignant osteopetrosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrocolon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mietens syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Annular pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mongolian spot Associated morphology False Congenital anomaly Inferred relationship Some
    Supernumerary tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of forearm with hand AND fingers Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pseudocryptorchism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hepatomegaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Naevus anaemicus Associated morphology False Congenital anomaly Inferred relationship Some
    Langer-Giedion syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital oesophagobronchial fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrodactyly of toes Associated morphology False Congenital anomaly Inferred relationship Some 3
    Uterus acollis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Disseminated superficial actinic porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Glycogen storage disease type VIII Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of genital organ Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paraumbilical hernia with gangrene AND obstruction Associated morphology False Congenital anomaly Inferred relationship Some 9
    Congenital varus deformity of foot Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cochleate uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Eruption cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Oto-palato-digital syndrome, type II Associated morphology False Congenital anomaly Inferred relationship Some 3
    Xeroderma pigmentosum, group F Associated morphology False Congenital anomaly Inferred relationship Some 1
    Islet cell hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Central core disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sarcotubular myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False Congenital anomaly Inferred relationship Some 1
    Progressive recessive dystrophic epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Brachydactyly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Xeroderma pigmentosum, group A Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct with acute cholecystitis with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of male genital system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dubin-Johnson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma punctata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Moynahan's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital cardiospasm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ruvalcaba-Myhre syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False Congenital anomaly Inferred relationship Some 2
    Calculus of bile duct with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Von Hippel-Lindau syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Female infertility due to structural congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Severe X-linked myotubular myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital duplication of gallbladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hiatus hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of bile ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital leukonychia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital shortening of leg Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naso-palatine duct cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Meckel's diverticulitis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Closure of cleft hand Direct morphology False Congenital anomaly Inferred relationship Some 2
    Metatarsus varus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Recessive dystrophic epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naevus of Ito Associated morphology False Congenital anomaly Inferred relationship Some
    Keratosis follicularis Associated morphology False Congenital anomaly Inferred relationship Some 2

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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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