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783614008: Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3759504015 Familial steroid-resistant nephrotic syndrome with sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3759503014 Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759504015 Familial steroid-resistant nephrotic syndrome with sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3449551001000118 Nephrotisches Syndrom, steroid-resistentes, mit sensorineuraler Hörstörung, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6218021000241115 syndrome néphrotique familial corticorésistant avec surdité neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6218031000241118 syndrome néphrotique familial résistant aux stéroïdes avec surdité neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6218021000241115 syndrome néphrotique familial corticorésistant avec surdité neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6218031000241118 syndrome néphrotique familial résistant aux stéroïdes avec surdité neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449551001000118 Nephrotisches Syndrom, steroid-resistentes, mit sensorineuraler Hörstörung, familiäre Form 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 sensorineural deafness (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Interprets Albumin measurement (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Interprets Measurement of protein in urine (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a Steroid-resistant nephrotic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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