Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036083016 | HELIX (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036084010 | Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036085011 | HELIX syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399942016 | A rare genetic disease characterized by 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 have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399943014 | A rare genetic disease characterised by 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 have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Electrolyte imbalance | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Metabolic renal disease | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Alacrima | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Hypohidrosis | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Ichthyosis | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Xerostomia | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Salt-losing nephropathy | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Finding site | Sweat gland structure | true | Inferred relationship | Some | 5 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Finding site | Salivary gland structure (body structure) | true | Inferred relationship | Some | 6 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 7 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Some | 3 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Interprets | Tear production | true | Inferred relationship | Some | 4 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Finding site | Lacrimal gland structure | true | Inferred relationship | Some | 2 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 1 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some | ||
| Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) | Is a | Disorder of salivary gland | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR