Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5197537012 | Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5197538019 | Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5197539010 | A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. There are also additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia and hypermagnesemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5197540012 | A rare genetic disease characterised by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia. There are also additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcaemia and hypermagnesaemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Neonatal renal disorder | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Fanconi syndrome | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Nephrocalcinosis | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Neonatal disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 3 | |
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 2 | |
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 2 | |
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | 1 | |
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Associated morphology | Pathologic calcification | true | Inferred relationship | Some | 1 | |
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Is a | Neonatal metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Finding site | Structure of parenchyma of kidney | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR