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38 Possible Causes for Abnormal Corticomedullary Differentiation, Congenital Malformation, female gonadal dysgenesis

Did you mean: Abnormal Corticomedullary Differentiation, Congenital Malformation, female, gonadal dysgenesis

  • Meckel Syndrome

    Individuals with MGS may also exhibit microphthalmia, cleft lip, micrognathia, liver fibrosis, gonadal dysgenesis, and congenital cardiovascular malformations such as aortic[symptoma.com] Abstract Meckel-Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum.[ncbi.nlm.nih.gov] […] appears to be failed interaction of the metanephric duct and renal blastema; the kidneys, therefore, show little corticomedullary differentiation, and the nephrons are severely[pathologyoutlines.com]

  • Kaufman Oculocerebrofacial Syndrome

    dysgenesis 46,XY partial gonadal dysgenesis AA amyloidosis AGel amyloidosis AL amyloidosis ATTRV122I amyloidosis ATTRV30M amyloidosis Adult hepatocellular carcinoma Aicardi-Goutières[se-atlas.de] The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral[ncbi.nlm.nih.gov] differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Accessory oral frenulum Pyelonephritis Frontal upsweep of hair Delayed eruption[mendelian.co]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    , 45,X/46,XX or XY Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome Q96.8 Other variants of Turner's syndrome Q96.9 Turner's syndrome, unspecified Q97[embryology.med.unsw.edu.au] congenital malformations of spinal cord Q06.9 Congenital malformation of spinal cord, unspecified Q07 Other congenital malformations of nervous system Q07.0 Arnold-Chiari[icd10data.com] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[mendelian.co]

  • Congenital Hydronephrosis

    In Gardner-Silengo-Wachtel syndrome (Micrognathia, low set ears, double outlet right ventricle with VSD and 46 XY Gonadal dysgenesis). No polydactyly.[omicsonline.org] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q60-Q64 Congenital malformations of the urinary system › Q62- Congenital obstructive[icd10data.com] Perinephric urinoma Keyhole sign Loss of renal parenchyma, as suggested by: (i) cortical thinning, (ii) poor corticomedullary differentiation, (iii) increased renal echogenicity[indianpediatrics.net]

  • Congenital Hemihypertrophy

    Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.[richtlijnendatabase.nl] malformations, deformations and chromosomal abnormalities - Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es] Heterogeneous Growth delay Respiratory distress Meningoencephalocele Episodic tachypnea Absence of renal corticomedullary differentiation Brainstem dysplasia Neonatal breathing[mendelian.co]

  • 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[books.google.de] Code Classification Congenital malformations, deformations and chromosomal abnormalities ( Q00-Q99 ) Other congenital malformations ( Q80-Q89 ) Oth congenital malform syndromes[icdlist.com] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[academic.oup.com]

  • Hydronephrosis

    In Gardner-Silengo-Wachtel syndrome (Micrognathia, low set ears, double outlet right ventricle with VSD and 46 XY Gonadal dysgenesis). No polydactyly.[omicsonline.org] We excluded cases involving urinary tract infection, neurogenic bladder and chromosomal anomalies, those associated with extraurinary congenital malformations and those with[ncbi.nlm.nih.gov] Perinephric urinoma Keyhole sign Loss of renal parenchyma, as suggested by: (i) cortical thinning, (ii) poor corticomedullary differentiation, (iii) increased renal echogenicity[indianpediatrics.net]

  • Waters-West Syndrome

    Turner syndrome: Turner syndrome, Macro, autopsy (73731) Turner syndrome, Macro, autopsy (73732) Turner syndrome, Macro, autopsy (73733) Turner syndrome, Macro, autopsy ([atlases.muni.cz] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co] Return to top MALE GU SEX DISORDERS: GENETIC SEX TURNER SYNDROME : XO genotype. MIXED GONADAL DYSGENESIS : 1 defined gonad plus a contralateral streak gonad.[kumc.edu]

  • 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[bioscientia.de] WHO-ICD-10 version:2010 Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of the urinary system Mode of Inheritance Autosomal recessive[cags.org.ae] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[mendelian.co]

  • Congenital Malformation Syndromes Involving Early Overgrowth

    The pattern of shortening of the bones of the hands in PHP and PPHP, a comparison with brachydactyly E, Turner syndrome and acrodysostosis. Radiology 123 :707–718.[link.springer.com] malformations and aniridia, American Journal of Medical Genetics Part A, 2012, 158A, 11, 2905 Wiley Online Library 20 Jaya K.[onlinelibrary.wiley.com] Figure 3 : Abdominal ultrasound scan at 6 months of age: nephromegaly with lobulated contoured kidneys and loss of corticomedullary differentiation.[atlasgeneticsoncology.org]

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