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3,116 Possible Causes for Abnormal Corticomedullary Differentiation, female gonadal dysgenesis, Fundoscopy Abnormal

Did you mean: Abnormal Corticomedullary Differentiation, female, gonadal dysgenesis, Fundoscopy Abnormal

  • Mulibrey Nanism Syndrome

    Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141 WeillMarchesani Syndrome 20 Laron Dwarfism[] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[] TownesBrocks Syndrome 14 Diabetes Insipidus 136 TreacherCollins Syndrome 15 Growth Hormone Deficiency 137 Triploidy SyndromePartial Molar Pregnancy 16 HAIRAN Syndrome 138 Turner[]

  • Senior-Løken Syndrome

    dysgenesis NR0B1 300473 2-4 gonadal dysgenesis NR0B1 300473 2-4 NR5A1 480000 2-4 sex differentiation - SRY 480000 2-4 SRY 480000 2-4 Shaheen syndrome COG6 606977 2-4 Short[] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[] Denys - Drash syndrome • Gonadal Dysgenesis • Diffuse mesangial sclerosis • Wilms tumour 56.[]

  • Retinitis Pigmentosa

    Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone.[] syndrome Turner syndrome in female with X chromosome, see Noonan syndrome Turner's syndrome, see Turner syndrome Turner-Kieser syndrome, see Nail-patella syndrome Turner-like[] We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation.[]

    Missing: Abnormal Corticomedullary Differentiation
  • Retinal Telangiectasia

    At the initial stages, there may only be vascular abnormalities, but as the disease progresses, exudation of fluid produces subretinal deposits, which can be seen on fundoscopy[] Coats' disease and turner's syndrome. Am J Ophthalmol 1974;78:852-854. 21. Kondra L, Cangemi FE, Pitta CG. Alport's syndrome and retinal telangiectasia.[] Computer-assisted image analysis can then be used to characterise more accurately abnormalities of the retinal microvasculature.[]

    Missing: Abnormal Corticomedullary Differentiation
  • Diabetic Retinopathy

    Diabetic retinopathy is diagnosed entirely by recognizing abnormalities on retinal images taken by fundoscopy.[] These include the chromosomal abnormalities of Down’s syndrome, Klinefelter’s syndrome, and Turner’s syndrome.[]

    Missing: Abnormal Corticomedullary Differentiation
  • Retinal Artery Embolism

    Other systemic syndromes that have been associated include Turner syndrome [14], epilepsy [15], Downs Syndrome, and craniosynostosis [4].[]

    Missing: Abnormal Corticomedullary Differentiation
  • Idiopathic Intracranial Hypertension

    Physical examination including fundoscopy as well as imaging showed no abnormalities.[] syndrome Symptoms may include any of the following: Headaches, throbbing, daily, irregular and worse in the morning Neck pain Blurred vision Buzzing sound in the ears (tinnitus[] […] deficiency anemia Obesity Obstructive sleep apnea Pregnancy Sarcoidosis (inflammation of the lymph nodes, lungs, liver, eyes, skin, or other tissues) Systemic lupus erythematosis Turner[]

    Missing: Abnormal Corticomedullary Differentiation
  • Arteriosclerotic Retinopathy

    Syndrome 485 Urethral Discharge and Dysuria 486 Urinary Retention Acute 487 Urine Red 488 Urolithiasis 489 Urticaria Hives 490 Uterine Myoma 491 Vaginal Bleeding Pregnancy[] Toxic Epidermal Necrolysis 478 Toxoplasmosis 479 Tracheitis 480 Trichotillomania 481 Tropical Sprue 482 Tubulointerstitial Kidney Disease 483 Tumor Markers Elevation 484 Turners[]

    Missing: Abnormal Corticomedullary Differentiation
  • Alport Syndrome

    syndrome 759.89 Rubinstein-Taybi's syndrome (brachydactylia, short stature and intellectual disabilities) 759.89 Rud's syndrome (mental deficiency, epilepsy, and infantilism[] Anomaly, specified type NEC ostium primary (deciduous) sinus Podencephalus 759.89 Polycystic (congenital) (disease) 759.89 degeneration, kidney - see Polycystic, kidney Pseudo-Turner's[]

    Missing: Abnormal Corticomedullary Differentiation
  • Ocular Albinism

    Both the mother and sister of the patient are carriers of the deletion and show a number of traits seen in Turner's syndrome.[]

    Missing: Abnormal Corticomedullary Differentiation

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