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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

    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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Humeroulnar synostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical aortic arch Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of heart NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cysts of the posterior segment Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital digestive system anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital crossed toes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hemimyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of tongue, salivary gland AND/OR pharynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of urethra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other and unspecified anomalies of eyelid, lacrimal system or orbit Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of upper limb with acrosyndactyly and amputation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lamellar ichthyosis AND trichorrhexis invaginata syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital knee joint deformity NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniolacunia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple benign annular creases of extremities Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete great vessel transposition Associated morphology False Congenital anomaly Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Congenital malformations of eye, ear, face and neck Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other liver and biliary anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male with sex chromosome mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Female infertility due to structural congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital corneal malformations Associated morphology False Congenital anomaly Inferred relationship Some 1
    Encephalocele of orbit Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 30 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Zebra body myopathy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomalies NEC Associated morphology False Congenital anomaly Inferred relationship Some 3
    A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Low anorectal malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anterior segment anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    14q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Pigmented xerodermoid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Biliary anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undergrowth of whole hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    XXXY syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    [X]Other congenital malformations of iris Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sinus of Valsalva abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hydromyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hirschsprung's disease and allied congenital conditions Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant ichthyosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Arrhythmogenic right ventricular dysplasia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group G Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Irido-trabecular dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dentinogenesis imperfecta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fissure of tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of posterior segment NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified liver and biliary system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Carpal synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bile duct anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right ventricular outflow tract abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other upper limb and shoulder anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of larynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Punctate palmoplantar keratoderma (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal dermatoglyphic pattern Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persisting fifth aortic arch Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tracheocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Overgrowth of whole upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 6 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fragile X syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 7 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreas divisum - incomplete (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group B Associated morphology False Congenital anomaly Inferred relationship Some
    Left ventricular outflow tract abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microdontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bullous ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sectorial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ball and socket ankle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paired teeth microdontia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Amyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary endocardial fibroelastosis of left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrosyndactyly of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cleft larynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rotational orbital dystopia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isologous chimera Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital overgrowth of distal lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atelencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent fetal uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Odontogenesis imperfecta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Optic disc vascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida aperta of lumbar spine (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Syringomyelia or syringobulbia NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hearing disorder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 1 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of camptodactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Genetic defect of hair shaft (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1

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