725033008: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Degenerative disorder\Calcinosis\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Metabolic disease\Metabolic disorder of transport\Primary hypomagnesaemia\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Metabolic disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder\Hypomagnesaemia\Primary hypomagnesaemia\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypercalciuria\Familial hypomagnesaemia-hypercalciuria\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Nephrocalcinosis\Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3446856017	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3446857014	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
3446858016	Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
3446859012	Renal hypomagnesemia type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3446860019	Renal hypomagnesaemia type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3446861015	A form of familial primary hypomagnesemia characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium wasting, hypercalciuria and kidney failure. This disease is characterized by impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop due to mutations in CLDN16 (3q27), which encodes claudin-16 (previously known as paracellin 1). A significant residual function is observed in several missense mutations, whereas a complete loss of claudin-16 function appears to be more severe with disease presenting earlier and often progressing to kidney failure at a significantly younger age. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3446862010	A form of familial primary hypomagnesaemia characterised by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium wasting, hypercalciuria and kidney failure. This disease is characterised by impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop due to mutations in CLDN16 (3q27), which encodes claudin-16 (previously known as paracellin 1). A significant residual function is observed in several missense mutations, whereas a complete loss of claudin-16 function appears to be more severe with disease presenting earlier and often progressing to kidney failure at a significantly younger age. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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