Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5036082014 | Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
5036083016 | HELIX (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
5036084010 | Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
5036085011 | HELIX syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
5036086012 | 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. | en | Definition | Active | Case sensitive | SNOMED CT core |
5036087015 | A rare genetic disease with characteristics of abnormalities in renal ion transport, ectodermal gland homeostasis and epidermal integrity, resulting in generalised 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 hypermagnesaemia, hypokalaemia, hypercalcaemia and hypocalciuria. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set