771447009: Laminin subunit beta 2 related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Finding of substance level\Finding of urine substance level\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Finding of substance level\Protein level - finding\Albumin level - finding\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Finding of substance level\Protein level - finding\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome

\Measurement finding outside reference range\Measurement finding above reference range\Urine substance level above reference range\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Measurement finding outside reference range\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic syndrome

\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\LAMB2-related infantile-onset nephrotic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic 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\Steroid-resistant nephrotic syndrome\LAMB2-related infantile-onset nephrotic 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\LAMB2-related infantile-onset nephrotic syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3706239014 Laminin subunit beta 2 related infantile-onset nephrotic syndrome en Synonym Active Case insensitive SNOMED CT core
3706240011 LAMB2-related infantile-onset nephrotic syndrome en Synonym Active Case sensitive SNOMED CT core
3706241010 LAMB2 (laminin subunit beta 2) related infantile-onset nephrotic syndrome en Synonym Active Case sensitive SNOMED CT core
3706242015 Laminin subunit beta 2 related infantile-onset nephrotic syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3706243013 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. en Definition Inactive Case sensitive SNOMED CT core
3706244019 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. en Definition Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
LAMB2-related infantile-onset nephrotic syndrome	Is a	Steroid-resistant nephrotic syndrome	true	Inferred relationship	Some
LAMB2-related infantile-onset nephrotic syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
LAMB2-related infantile-onset nephrotic syndrome	Finding site	Glomerulus structure	true	Inferred relationship	Some	1
LAMB2-related infantile-onset nephrotic syndrome	Occurrence	Infancy	true	Inferred relationship	Some	1
LAMB2-related infantile-onset nephrotic syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
LAMB2-related infantile-onset nephrotic syndrome	Interprets	Albumin measurement	true	Inferred relationship	Some	3
LAMB2-related infantile-onset nephrotic syndrome	Interprets	Urine protein measurement	true	Inferred relationship	Some	2
LAMB2-related infantile-onset nephrotic syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
LAMB2-related infantile-onset nephrotic syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3706239014	Laminin subunit beta 2 related infantile-onset nephrotic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706240011	LAMB2-related infantile-onset nephrotic syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3706241010	LAMB2 (laminin subunit beta 2) related infantile-onset nephrotic syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3706242015	Laminin subunit beta 2 related infantile-onset nephrotic syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706243013	A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.	en	Definition	Inactive	Case sensitive	SNOMED CT core
3706244019	A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.	en	Definition	Inactive	Case sensitive	SNOMED CT core