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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | Steroid-resistant nephrotic syndrome | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | Disorder of lipid metabolism | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | Congenital hypoplasia of adrenal gland | true | Inferred relationship | Some | ||
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | localisation d'une constatation (attribut) | Glomerulus structure | true | Inferred relationship | Some | 4 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | interprète (attribut) | Albumin measurement | true | Inferred relationship | Some | 2 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | interprète (attribut) | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 3 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | localisation d'une constatation (attribut) | cortex surrénalien | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | est un(e) (attribut) | maladie métabolique du rein | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR