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

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Finding of substance level\Finding of urine substance level\Urine substance level above reference range\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of substance level\Finding of urine substance level\Urine protein abnormal\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of substance level\Protein level - finding\Albumin level - finding\Decreased albumin\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of substance level\Protein level - finding\Urine protein abnormal\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Urine substance level above reference range\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Measurement finding outside reference range\Measurement finding below reference range\Decreased albumin\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Measurement finding outside reference range\Urine protein abnormal\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Viscus structure finding\Lung finding\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Disorder of connective tissue\Interstitial lung disease\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
• \Disease\Congenital disease\Congenital connective tissue disorder\Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3499460010	Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499461014	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499462019	Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

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