783614008: Familial steroid-resistant nephrotic syndrome with sensorineural deafness (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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Finding of substance level\Finding of urine substance level\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Finding of substance level\Protein level - finding\Albumin level - finding\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Finding of substance level\Protein level - finding\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

\Measurement finding outside reference range\Measurement finding above reference range\Urine substance level above reference range\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Measurement finding outside reference range\Measurement finding below reference range\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Measurement finding outside reference range\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

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

\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

\Disorder of renal parenchyma\Glomerular disease\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness
\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\Familial steroid-resistant nephrotic syndrome with sensorineural deafness

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

Descriptions:

Id Description Lang Type Status Case? Module

3759503014 Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3759504015 Familial steroid-resistant nephrotic syndrome with sensorineural deafness en Synonym Active Case insensitive SNOMED CT core

3759505019 A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. en Definition Active Case sensitive SNOMED CT core

3759506018 A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Interprets	Albumin measurement	true	Inferred relationship	Some	1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Interprets	Urine protein measurement	true	Inferred relationship	Some	2
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Is a	Steroid-resistant nephrotic syndrome	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Finding site	Glomerulus structure	true	Inferred relationship	Some	3
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Finding site	Structure of auditory system	true	Inferred relationship	Some	4
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Interprets	Hearing	true	Inferred relationship	Some	5

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
3759503014	Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3759504015	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	en	Synonym	Active	Case insensitive	SNOMED CT core
3759505019	A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described.	en	Definition	Active	Case sensitive	SNOMED CT core
3759506018	A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described.	en	Definition	Active	Case sensitive	SNOMED CT core