Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3447485011 | Autosomal dominant medullary cystic kidney disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3636201018 | Autosomal dominant tubulointerstitial kidney disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3636202013 | Autosomal dominant tubulointerstitial kidney disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6354491000146116 | autosomaal dominante tubulo-interstitiële nierziekte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6354501000146114 | autosomaal dominante tubulo-interstitiële nierziekte (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6354511000146111 | ADTKD | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6354531000146116 | medullary cystic kidney disease | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6354541000146112 | MCKD | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6354551000146110 | medullaire cystenieren | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6524831000146118 | autosomaal dominante medullaire cystische nierziekte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3447486012 | Autosomal dominant medullary cystic kidney disease is a chronic tubulointerstitial nephropathy, which belongs to a heterogeneous group of inherited tubulo-interstitial nephritis. Less than 60 families affected have been described. Clinical onset and course are insidious. Symptoms typically appear at an average age of 28 years, when the urinary concentrating ability is markedly reduced, producing polyuria and stable low urinary osmolality in the first morning urine and lack of any compensatory effect after endonasal desmopressin. End-stage renal disease typically occurs in the third-fifth decade of life or even later. Two genes have been linked to the disease: MCKD1 (1q21) and MCKD2 (in 16p12, where the gene UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10220231000146110 | ADTKD; erfelijke nierziekte waarbij sprake is van een mutatie of deletie van een HNF1b-gen; leidt tot een verstoorde ontwikkeling en functie van verschillende organen; uit zich onder meer in niercysten, een gestoorde nierfunctie en vaak ook te veel uitscheiding van magnesium; door een verstoorde aanleg of functie van de pancreas is de kans op ontwikkeling van diabetes mellitus verhoogd, ook op jonge leeftijd. | nl | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant tubulointerstitial kidney disease | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant tubulointerstitial kidney disease | Is a | Medullary cystic disease of the kidney | true | Inferred relationship | Some | ||
| Autosomal dominant tubulointerstitial kidney disease | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant tubulointerstitial kidney disease | Associated morphology | Fibrocystic change | true | Inferred relationship | Some | 1 | |
| Autosomal dominant tubulointerstitial kidney disease | Finding site | Structure of medulla of kidney | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| UMOD-related autosomal dominant tubulointerstitial kidney disease | Is a | True | Autosomal dominant tubulointerstitial kidney disease | Inferred relationship | Some | |
| Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) | Is a | True | Autosomal dominant tubulointerstitial kidney disease | Inferred relationship | Some |
This concept is not in any reference sets
FHIR