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718141008: Genetic steroid-resistant nephrotic syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3311280016 Familial idiopathic steroid-resistant nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4550342013 Genetic steroid-resistant nephrotic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4550343015 Genetic steroid-resistant nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4550344014 Hereditary steroid-resistant nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401685014 A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401686010 A rare, hereditary nephrotic syndrome characterised by proteinuria, hypoalbuminaemia, oedema, and hyperlipidaemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311279019 Familial idiopathic steroid-resistant nephrotic syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311279019 Familial idiopathic steroid-resistant nephrotic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311280016 Familial idiopathic steroid-resistant nephrotic syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311280016 Familial idiopathic steroid-resistant nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4550342013 Genetic steroid-resistant nephrotic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4550343015 Genetic steroid-resistant nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4550344014 Hereditary steroid-resistant nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311281017 Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible edema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311282012 Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible oedema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401685014 A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401686010 A rare, hereditary nephrotic syndrome characterised by proteinuria, hypoalbuminaemia, oedema, and hyperlipidaemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3387641001000110 Nephrotisches Syndrom, steroid-resistentes, genetisch bedingtes de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918641000172114 néphrose idiopathique familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
923281000172119 syndrome néphrotique idiopathique familial cortico-résistant fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011881000241110 syndrome néphrotique corticorésistant d'origine génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1012071000241111 syndrome néphrotique corticorésistant héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918641000172114 néphrose idiopathique familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
923281000172119 syndrome néphrotique idiopathique familial cortico-résistant fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011881000241110 syndrome néphrotique corticorésistant d'origine génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1012071000241111 syndrome néphrotique corticorésistant héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387641001000110 Nephrotisches Syndrom, steroid-resistentes, genetisch bedingtes 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
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Is a Steroid-resistant nephrotic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Interprets Albumin measurement (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Interprets Measurement of protein in urine (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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