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HELIX (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome
disorderSNOMED 1217380005CUI C4522164
Overview
HELIX (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent tear secretion
Always present (100%)HP:0000522
High blood Mg levels
Always present (100%)HP:0002918
Hyperparathyroidism
Always present (100%)HP:0000843
Sweating dysfunction
Always present (100%)HP:0000970
Xerostomia
Always present (100%)HP:0000217
Kidney stones
Frequent (30-79%)HP:0000787
Decreased sweating
HP:0000966
Dry skin
HP:0000958
Extreme thirst
HP:0001959
Increased urine output
HP:0000103
Intolerance to heat and fevers
HP:0002046
Low blood potassium levels
HP:0002900
Low urine calcium levels
HP:0003127
Renal failure
HP:0000083
Related Conditions
Electrolyte imbalance(parent)
Metabolic renal disease(parent)
Alacrima(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Hereditary nephropathy(parent)
Hypohidrosis(parent)
Ichthyosis(parent)
Recessive hereditary disorder (autosomal)(parent)
Salt-losing nephropathy(parent)
Renal tubular disorder(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Disorder of salivary gland(parent)
Quick Facts
- SNOMED CT
- 1217380005
- UMLS CUI
- C4522164
- Fully Specified Name
- Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.