FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1217380005: Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder)


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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
HELIX syndrome Is a Electrolyte imbalance true Inferred relationship Some
HELIX syndrome Is a Metabolic renal disease true Inferred relationship Some
HELIX syndrome Is a Alacrima true Inferred relationship Some
HELIX syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
HELIX syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
HELIX syndrome Is a Hereditary nephropathy true Inferred relationship Some
HELIX syndrome Is a Hypohidrosis true Inferred relationship Some
HELIX syndrome Is a Ichthyosis true Inferred relationship Some
HELIX syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
HELIX syndrome Is a Aptyalism true Inferred relationship Some
HELIX syndrome Is a Salt-losing nephropathy true Inferred relationship Some
HELIX syndrome Is a Renal tubular disorder true Inferred relationship Some
HELIX syndrome Finding site Sweat gland structure true Inferred relationship Some 5
HELIX syndrome Finding site Salivary gland structure true Inferred relationship Some 6
HELIX syndrome Finding site Renal tubule structure true Inferred relationship Some 7
HELIX syndrome Interprets Sweating true Inferred relationship Some 3
HELIX syndrome Has interpretation Decreased true Inferred relationship Some 3
HELIX syndrome Interprets Tear production true Inferred relationship Some 4
HELIX syndrome Has interpretation Decreased true Inferred relationship Some 4
HELIX syndrome Occurrence Congenital true Inferred relationship Some 2
HELIX syndrome Finding site Lacrimal gland structure true Inferred relationship Some 2
HELIX syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
HELIX syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
HELIX syndrome Finding site Entire skin true Inferred relationship Some 1
HELIX syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start