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1,105 Possible Causes for Aortic Valve Insufficiency, Persistent Notochordal Canal, Small Optic Disc

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org] Other findings included posterior embryotoxon (69%), isolated corneal nerves (3%), sclerocornea (3%), deep iris crypts (10%), tortuous retinal vessels (58%), small optic nerves[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Optic Atrophy-Intellectual Disability Syndrome

    Tall stature, pectus deformity, club foot, aortic root aneurysm, and mitral valve insufficiency are common features with pathogenic variants in TGFβ2 (LDS4).[chginc.org] disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Systemic Lupus Erythematosus

    disc swelling.[academic.oup.com] This is due to occlusion of the small vessels of the optic nerves, which leads to demyelination in mild cases or axonal necrosis in more severe cases.[academic.oup.com] […] neuritis, optic neuropathy in SLE typically presents with bilateral, acute painless loss of vision associated with an altitudinal or arcuate field defect, with or without optic[academic.oup.com]

    Missing: Persistent Notochordal Canal
  • Pseudoxanthoma Elasticum

    Except from a small optic disc without cupping he did not show further risk factors.[ncbi.nlm.nih.gov] The difference of PXE compared to control eyes was largest close to the optic disc and approximated the level of controls toward the periphery.[ncbi.nlm.nih.gov] Associated structural changes included apparent loss of small choroidal vessels.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Aortic Stenosis with Bicuspid Valve

    - New Code 2018 2019 Billable/Specific Code POA Exempt valve Q23.1 Insufficiency, insufficient aortic (valve) I35.1 ICD-10-CM Diagnosis Code I35.1 Nonrheumatic aortic (valve[icd10data.com] OBJECTIVES: The aim of this study was to evaluate aortic media changes in bicuspid aortic valve (BAV) patients who underwent aortic valve replacement (AVR) and simultaneous[ncbi.nlm.nih.gov] We occasionally see younger patients in their 20’s with severe aortic valve insufficiency (backward leak).[heartsurgeryinfo.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Aortic Valve Stenosis

    Aortic Valve Insufficiency An Insufficiency means that the aortic valve leaks when it is closed.[heartsurgeryinfo.com] Severe aortic valve insufficiency may require surgical intervention (although rarely emergently).[cincinnatichildrens.org] With the help of medical therapy, most patients with aortic valve insufficiency can live without symptoms for a period of time.[heartsurgeryinfo.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Heart Valve Disease

    There are two main diseases or malfunctions of the aortic valve: Aortic valve insufficiency/regurgitation Aortic valve insufficiency/regurgitation is a condition that occurs[nm.org] […] failure of surgical valves (bioprosthetic aortic valve insufficiency or stenosis; prosthetic paravalvular leaks) Congenital heart conditions including atrial septal defect[carolinashealthcare.org] 396.1 to ICD-10-CM 396.2 Mitral valve insufficiency and aortic valve stenosis convert 396.2 to ICD-10-CM 396.3 Mitral valve insufficiency and aortic valve insufficiency convert[icd9data.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Myocardial Infarction

    History The patient’s history is critical in diagnosing myocardial infarction (MI) and sometimes may provide the only clues that lead to the diagnosis in the initial phases of the patient presentation. Patients with typical acute MI usually present with chest pain and may have prodromal symptoms of fatigue, chest[…][emedicine.medscape.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Aortic Valve Insufficiency
  • Aortic Valve Insufficiency

    aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency AR Corrigan's disease[wikidata.org] Aortic valve insufficiency, also referred to as aortic regurgitation in cardiology guidelines and scientific literature, represents the incompetence of the aortic valve, causing[symptoma.com] English aortic valve insufficiency aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during[wikidata.org]

    Missing: Persistent Notochordal Canal Small Optic Disc

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