1187040004: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder)

\Kidney finding\Kidney disease\...

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

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

Descriptions:

Id Description Lang Type Status Case? Module

4669035011 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4669036012 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4669704012 Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4669705013 Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 (sphingosine-1-phosphate lyase 1) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5329861000052112 familjärt steroidresistent nefrotiskt syndrom med binjuresvikt sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Disorder of lipid metabolism	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 (disorder)	true	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	Hereditary nephropathy (disorder)	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	Measurement of protein in urine (procedure)	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 (attribute)	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

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
4669035011	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669036012	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669704012	Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4669705013	Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 (sphingosine-1-phosphate lyase 1) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5329861000052112	familjärt steroidresistent nefrotiskt syndrom med binjuresvikt	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)