733453005: Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of urine substance level\Drug, medicament, or biological substance in urine above reference range (finding)\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of substance level (finding)\Finding of urine substance level\Urine protein abnormal\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of substance level (finding)\Protein level - finding\Albumin level - finding\Decreased albumin\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of substance level (finding)\Protein level - finding\Urine protein abnormal\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Drug, medicament, or biological substance in urine above reference range (finding)\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Decreased albumin\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Measurement finding outside reference range\Urine protein abnormal\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Viscus structure finding (finding)\constatation à propos d'un poumon\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\constatation à propos d'un poumon\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Respiratory finding\constatation à propos des voies respiratoires inférieures\constatation à propos d'un poumon\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Respiratory finding\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection d'un système corporel\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome néphrotique (trouble)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\affection du tissu conjonctif\pneumopathie interstitielle\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499459017	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499460010	Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499461014	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499462019	Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3500001019	A life-threatening multi organ disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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