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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Humeroulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Transitional vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cervical aortic arch Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dumbbell-shaped cartilaginous centrum of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypoplasia of heart NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital cysts of the posterior segment Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other congenital digestive system anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lipomeningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital crossed toes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hemimyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of tongue, salivary gland AND/OR pharynx Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Unspecified anomaly of urethra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other and unspecified anomalies of eyelid, lacrimal system or orbit Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Constriction ring of upper limb with acrosyndactyly and amputation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lamellar ichthyosis AND trichorrhexis invaginata syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital knee joint deformity NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Craniolacunia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Multiple benign annular creases of extremities Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete great vessel transposition Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Partial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    [X]Congenital malformations of eye, ear, face and neck Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other liver and biliary anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Paramedian facial cleft - Tessier cleft 3 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Male with sex chromosome mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Unspecified spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Female infertility due to structural congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of vena cava Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital corneal malformations Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Encephalocele of orbit Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Midline facial cleft - Tessier cleft 30 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Zebra body myopathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital sacrococcygeal anomalies NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Keratitis ichthyosis and deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Low anorectal malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anterior segment anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    14q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Pigmented xerodermoid Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Biliary anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Undergrowth of whole hand Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    XXXY syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    [X]Other congenital malformations of iris Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sinus of Valsalva abnormality Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hydromyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Hirschsprung's disease and allied congenital conditions Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Autosomal dominant ichthyosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Arrhythmogenic right ventricular dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Café-au-lait macules with temporal dysrhythmia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Xeroderma pigmentosum, group G Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital sacrococcygeal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Irido-trabecular dysgenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dentinogenesis imperfecta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital fissure of tongue Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomalies of posterior segment NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Unspecified liver and biliary system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Carpal synostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Bile duct anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Right ventricular outflow tract abnormality Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other upper limb and shoulder anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other anomaly of larynx Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Punctate palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ichthyosis hystrix of Curth-Macklin Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Abnormal dermatoglyphic pattern Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Persisting fifth aortic arch Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital tracheocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal fusion of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Overgrowth of whole upper limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Infraorbital facial cleft - Tessier cleft 6 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Fragile X syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of eyelid Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Infraorbital facial cleft - Tessier cleft 7 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pancreas divisum - incomplete Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chromosomal alterations of group B Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Left ventricular outflow tract abnormality Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Microdontia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Bullous ichthyosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sectorial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital ball and socket ankle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Paired teeth microdontia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Amyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Primary endocardial fibroelastosis of left ventricle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Acrosyndactyly of upper limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital cleft larynx Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Rotational orbital dystopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Isologous chimera Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital overgrowth of distal lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Atelencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Persistent fetal uterus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Odontogenesis imperfecta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Optic disc vascular anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida aperta of lumbar spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Syringomyelia or syringobulbia NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hearing disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Paramedian facial cleft - Tessier cleft 1 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Correction of camptodactyly Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Genetic defect of hair shaft Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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