| 'solute carrier family 40 member 1'-gerelateerde hemochromatose (aandoening) | | SLC40A1-gerelateerde hemochromatose | | SLC40A1-gerelateerde ijzerstapelingsziekte
'solute carrier family 40 member 1'-gerelateerde hemochromatose
| | SLC40A1-related hemochromatosis | | Solute carrier family 40 member 1-related hemochromatosis
| | A form of rare hemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant. |
| | Id | 1303910000 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E83.1 | | Rule | TRUE | | Advice | ALWAYS E83.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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