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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
    [X]Congenital malformation of larynx, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of palate, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of mouth Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other mouth anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of nose NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Erythrokeratoderma en cocardes Associated morphology False Congenital anomaly Inferred relationship Some 1
    L'Episcopo operation for obstetric palsy Direct morphology False Congenital anomaly Inferred relationship Some 1
    Zachary operation for obstetric palsy Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hindfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital protrusion Is a False Congenital anomaly Inferred relationship Some
    Congenital tracheal collapse Associated morphology False Congenital anomaly Inferred relationship Some 2
    Choledochocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital pericardial defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes equinovarus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes equinovarus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa simplex, Ogna type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant epidermolysis bullosa simplex Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital choledochal cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of face Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fistula of urachus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary nipple Associated morphology False Congenital anomaly Inferred relationship Some 1
    L - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 2
    L - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 2
    L - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 1
    Facioscapulohumeral muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary seborrhoea Associated morphology False Congenital anomaly Inferred relationship Some 1
    D - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 2
    D - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 1
    D - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 4
    Diffuse palmoplantar keratoderma of Thost-Unna Associated morphology False Congenital anomaly Inferred relationship Some 2
    Deep haemangioma of skin Associated morphology False Congenital anomaly Inferred relationship Some 4
    Junctional epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectodermal dysplasia with tooth-nail-sweating defect Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital vascular disorder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary benign intraepithelial dyskeratosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Acrokeratosis verruciformis of Darier disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Acrokeratosis verruciformis of Hopf Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary diffuse palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Junctional epidermolysis bullosa gravis of Herlitz Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cryptophthalmos Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cryptophthalmos Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ankyloblepharon filiforme adnatum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ankyloblepharon filiforme adnatum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tarsal kink Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital tarsal kink Associated morphology False Congenital anomaly Inferred relationship Some 1
    Euryblepharon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Euryblepharon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital miosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital iris ectropion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa acquisita, classical acral type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa acquisita, bullous pemphigoid-like Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epidermolysis bullosa acquisita, cicatricial pemphigoid-like Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa acquisita, Brunsting-Perry type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa acquisita, oral mucosal involvement Associated morphology False Congenital anomaly Inferred relationship Some 1
    Developmental anomaly of vitelline duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    X-linked recessive ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Punctate palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genetic defect of hair shaft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Developmental malformation of branchial arch Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fordyce spots of buccal mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital lower lip pits Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary mucoepithelial dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent vitelline duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vitelline duct polyp Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypertrichosis with congenital macrogingivae Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline cervical cleft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutaneous lesion resulting from spinal dysraphism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutaneous lesion resulting from spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary digit Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa due to drug Associated morphology False Congenital anomaly Inferred relationship Some 3
    Odonto-onycho-dermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Odontomicronychial ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Lamellar ichthyosis (limited type) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis, cerebellar degeneration and hepatosplenomegaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive keratitis-ichthyosis-deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    PIBIDS syndrome, photosensitivity with IBIDS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis follicularis with alopecia and photophobia (IFAP) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Flexural Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypertrophic Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Linear/nevoid/zosteriform Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acral Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Palmar pitting due to Darier disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Nail dystrophy due to Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nail dystrophy due to benign familial pemphigus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma with deafness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant familial woolly hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive familial woolly hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    BIDS syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genetic abnormality of hair shaft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypertrichosis lanuginosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Generalised recessive non-mutilating dystrophic epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dystrophic epidermolysis bullosa inverse type Associated morphology False Congenital anomaly Inferred relationship Some 1

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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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