| syndroom van hypohidrose, verstoorde elektrolytenbalans, functiestoornis van glandula lacrimalis, ichtyose en xerostomie (aandoening) | | syndroom van hypohidrose, verstoorde elektrolytenbalans, functiestoornis van glandula lacrimalis, ichtyose en xerostomie | | HELIX-syndroom
syndroom van hypohidrose, verstoorde elektrolytenbalans, functiestoornis van traanklier, ichthyosis en droge mond
| | HELIX syndrome | | Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome
HELIX (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome
| | A rare genetic disease with characteristics of abnormalities in renal ion transport, ectodermal gland homeostasis and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis and xerostomia. Development of nephrolithiasis and severe enamel wear has also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia and hypocalciuria. |
| | Id | 1217380005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 528105 |
| SNOMED CT to ICD-10 extended map | | Target | N25.8 | | Rule | TRUE | | Advice | ALWAYS N25.8 | 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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