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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
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Humeroulnar synostosis Associated morphology False kongenit anomali 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 kongenit anomali Inferred relationship Some 1
    Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical aortic arch Associated morphology False kongenit anomali Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of sacral vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    hypoplasi af hjertet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte cyster i det posteriore segment Associated morphology False kongenit anomali Inferred relationship Some 1
    anden kongenit fordøjelsessystemanomali Associated morphology False kongenit anomali 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 kongenit anomali Inferred relationship Some 2
    Congenital crossed toes Associated morphology False kongenit anomali Inferred relationship Some 1
    Hemimyelia Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of tongue, salivary gland AND/OR pharynx Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret uretraanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    andre og uspecificerede anomalier af øjenlåg, tåreapparatet og orbita Associated morphology False kongenit anomali Inferred relationship Some 1
    Constriction ring of upper limb with acrosyndactyly and amputation Associated morphology False kongenit anomali Inferred relationship Some 1
    Lamelløs iktyose OG invagineret trikoreksi-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit deformitet af knæled, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Craniolacunia Associated morphology False kongenit anomali Inferred relationship Some 1
    Multiple benign annular creases of extremities Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete great vessel transposition Associated morphology False kongenit anomali Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    [X]Congenital malformations of eye, ear, face and neck Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre leveranomalier og biliære anomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 3 Associated morphology False kongenit anomali Inferred relationship Some 1
    Male with sex chromosome mosaicism Associated morphology False kongenit anomali Inferred relationship Some
    Uspecificeret spina bifida med hydrocephalus – åben Associated morphology False kongenit anomali Inferred relationship Some 2
    Female infertility due to structural congenital anomaly of vagina Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital corneal malformations Associated morphology False kongenit anomali Inferred relationship Some 1
    Encephalocele of orbit Associated morphology False kongenit anomali Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 30 Associated morphology False kongenit anomali Inferred relationship Some 1
    Zebra body myopathy Associated morphology False kongenit anomali Inferred relationship Some 2
    Torakal spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte sakrokokcygeale anomalier, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 3
    A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. Associated morphology False kongenit anomali Inferred relationship Some 1
    Low anorectal malformation Associated morphology False kongenit anomali Inferred relationship Some 1
    anomalier af anteriore segment, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    14q partial trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Pigmenteret xeroderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Biliary anomalies Associated morphology False kongenit anomali Inferred relationship Some 1
    Undergrowth of whole hand Associated morphology False kongenit anomali Inferred relationship Some 1
    XXXY syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    [X]Other congenital malformations of iris Associated morphology False kongenit anomali Inferred relationship Some 1
    Sinus of Valsalva abnormality (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Hydromyelia Associated morphology False kongenit anomali Inferred relationship Some 2
    Hirschsprungs sygdom og beslægtede kongenitte tilstande Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal dominant ichthyosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Arrhythmogenic right ventricular dysplasia (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group G Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit sakrokokcygeal anomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Irido-trabecular dysgenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Dentinogenesis imperfecta Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit fissur af tungen Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte anomalier i det posteriore segment, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret anomali i lever og galdesystem, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Karpalsynostose Associated morphology False kongenit anomali Inferred relationship Some 1
    galdegangsanomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Right ventricular outflow tract abnormality (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    anden overekstremitets- og skulderanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    anden anomali af larynx Associated morphology False kongenit anomali Inferred relationship Some 1
    Punctate palmoplantar keratoderma (disorder) Associated morphology False kongenit anomali 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 kongenit anomali Inferred relationship Some 1
    Abnormal dermatoglyphic pattern Associated morphology False kongenit anomali Inferred relationship Some 1
    Persisting fifth aortic arch Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital tracheocele Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital abnormal fusion of tympanic anulus Associated morphology False kongenit anomali Inferred relationship Some 2
    Overgrowth of whole upper limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 6 Associated morphology False kongenit anomali Inferred relationship Some 1
    Fragile X syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of eyelid Associated morphology False kongenit anomali Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 7 Associated morphology False kongenit anomali Inferred relationship Some 1
    Pancreas divisum - incomplete (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of vagina Associated morphology False kongenit anomali Inferred relationship Some 1
    Chromosomal alterations of group B Associated morphology False kongenit anomali Inferred relationship Some
    Left ventricular outflow tract abnormality Associated morphology False kongenit anomali Inferred relationship Some 1
    Microdontia Associated morphology False kongenit anomali Inferred relationship Some 1
    Bulløs iktyose Associated morphology False kongenit anomali Inferred relationship Some 1
    Sectorial hypoplasia of optic disc (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital ball and socket ankle Associated morphology False kongenit anomali Inferred relationship Some 1
    Paired teeth microdontia Associated morphology False kongenit anomali Inferred relationship Some 1
    Café au lait-pletter uden neurofibromatose Associated morphology False kongenit anomali Inferred relationship Some 1
    Amyelia Associated morphology False kongenit anomali Inferred relationship Some 2
    Primary endocardial fibroelastosis of left ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Akrosyndaktyli i overekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cleft larynx Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    Rotational orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Isologous chimera Associated morphology False kongenit anomali Inferred relationship Some
    Congenital overgrowth of distal lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Atelencephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Persistent fetal uterus Associated morphology False kongenit anomali Inferred relationship Some 1
    Odontogenesis imperfecta Associated morphology False kongenit anomali Inferred relationship Some 1
    vaskulær anomali af synsnervepapil Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida aperta of lumbar spine (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Syringomyelia et syringobulbia, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hearing disorder Associated morphology False kongenit anomali Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 1 (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of camptodactyly Direct morphology False kongenit anomali Inferred relationship Some 1
    Genetic defect of hair shaft (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1

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