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723440000: Nephrogenic syndrome of inappropriate antidiuresis (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424620010 Nephrogenic syndrome of inappropriate antidiuresis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3424621014 Nephrogenic syndrome of inappropriate antidiuresis en Synonym Active Case insensitive SNOMED CT core
3424622019 NSIAD - nephrogenic syndrome of inappropriate antidiuresis en Synonym Active Case sensitive SNOMED CT core
3424623012 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. en Definition Active Case sensitive SNOMED CT core
3424624018 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterised by hypotonic hyponatraemia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatraemic 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Nephrogenic syndrome of inappropriate antidiuresis Is a X-linked recessive hereditary disease true Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a Congenital disease true Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a Renal tubular disorder true Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a X-linked hereditary disease false Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a Hereditary nephropathy true Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Occurrence Congenital true Inferred relationship Some 1
Nephrogenic syndrome of inappropriate antidiuresis Finding site Renal tubule structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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