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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (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
5399548013 A rare disorder with multisystemic involvement and glomerulopathy characterized by 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
5399549017 A rare disorder with multisystemic involvement and glomerulopathy characterised by 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
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
5399548013 A rare disorder with multisystemic involvement and glomerulopathy characterized by 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
5399549017 A rare disorder with multisystemic involvement and glomerulopathy characterised by 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
3439451001000115 Familiäres steroidresistentes nephrotisches Syndrom mit Nebenniereninsuffizienz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6189041000241119 syndrome néphrotique familial corticorésistant avec insuffisance surrénalienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6189051000241116 syndrome néphrotique familial résistant aux stéroïdes avec insuffisance surrénalienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6189041000241119 syndrome néphrotique familial corticorésistant avec insuffisance surrénalienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6189051000241116 syndrome néphrotique familial résistant aux stéroïdes avec insuffisance surrénalienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439451001000115 Familiäres steroidresistentes nephrotisches Syndrom mit Nebenniereninsuffizienz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Steroid-resistant nephrotic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Disorder of lipid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Congenital hypoplasia of adrenal gland (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Interprets Albumin measurement (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Interprets Measurement of protein in urine (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Finding site Adrenal cortex structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a Metabolic renal disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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