Alacrima
Autosomal recessive hereditary disorder
Digestive system hereditary disorder
Electrolyte imbalance
Hereditary disorder of the integument
Hereditary nephropathy
Hypohidrosis
Ichthyosis
Metabolic renal disease
Renal tubular disorder
Salt-losing nephropathy
Xerostomia
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Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder)
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.
Id1217380005
StatusPrimitive
Finding siteSweat gland structure
Finding siteSalivary gland structure
Finding siteRenal tubule structure
Has interpretationDecreased
InterpretsSweating
Has interpretationDecreased
InterpretsTear production
Associated morphologyMorphologically abnormal structure
Finding siteLacrimal gland structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHyperkeratosis
Finding siteEntire skin
ICD-10 complex map reference set
TargetN25.8
RuleTRUE
AdviceALWAYS N25.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified