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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | interprète (attribut) | Albumin measurement | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | interprète (attribut) | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 2 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | est un(e) (attribut) | Steroid-resistant nephrotic syndrome | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | localisation d'une constatation (attribut) | Glomerulus structure | true | Inferred relationship | Some | 3 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 4 | |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR