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 |
| 12188331000172114 | syndrome néphrotique familial corticorésistant avec surdité neurosensorielle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 12188341000172119 | syndrome néphrotique familial résistant aux stéroïdes avec surdité neurosensorielle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4338371000172116 | familair niet-steroïdgevoelig nefrotisch syndroom met perceptief gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4338381000172118 | familair steroïdresistent nefrotisch syndroom met perceptief gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4338391000172115 | familair SRNS met perceptief gehoorverlies | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 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 | Some | 2 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Interprets | Albumin measurement | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Interprets | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 2 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Is a | Steroid-resistant nephrotic syndrome | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 3 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR