1187040004: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (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 adrenal insufficiency
\Finding of substance level\Finding of urine substance level\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of substance level\Protein level - finding\Albumin level - finding\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of substance level\Protein level - finding\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

\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 adrenal insufficiency
\Measurement finding outside reference range\Measurement finding below reference range\Decreased albumin\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Measurement finding outside reference range\Urine protein abnormal\Nephrotic syndrome\Steroid-resistant nephrotic syndrome\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

\Viscus structure finding\Abdominal organ finding\...

\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

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

\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\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\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\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\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\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\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\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\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\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 adrenal insufficiency
\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\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\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 adrenal insufficiency
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Metabolic disease\Metabolic renal disease\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4669035011 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency en Synonym Active Case insensitive SNOMED CT core

4669036012 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4669704012 Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

4669705013 Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 (sphingosine-1-phosphate lyase 1) deficiency en Synonym Active Initial character case insensitive SNOMED CT core

4669038013 A rare disorder with multisystemic involvement and glomerulopathy with characteristics of progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). 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 adrenal insufficiency	Is a	Steroid-resistant nephrotic syndrome	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Lipid metabolism disorder	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Congenital hypoplasia of adrenal gland	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Finding site	Glomerulus structure	true	Inferred relationship	Some	4
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Interprets	Albumin measurement	true	Inferred relationship	Some	2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Interprets	Urine protein measurement	true	Inferred relationship	Some	3
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Metabolic renal disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4669035011	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4669036012	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4669704012	Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4669705013	Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 (sphingosine-1-phosphate lyase 1) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4669038013	A rare disorder with multisystemic involvement and glomerulopathy with characteristics of progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).	en	Definition	Active	Case sensitive	SNOMED CT core