Congenital disease
Congenital nephropathy
Hereditary nephropathy
Renal tubular disorder
X-linked recessive hereditary disease
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Nephrogenic syndrome of inappropriate antidiuresis (disorder)
Nephrogenic syndrome of inappropriate antidiuresis
NSIAD - nephrogenic syndrome of inappropriate antidiuresis
A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers.
nefrogeen syndroom van inadequate antidiurese
NSIAD
Id723440000
StatusPrimitive
Finding siteRenal tubule structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE22.2
RuleTRUE
AdviceALWAYS E22.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified