50029007: Familial hypomagnesemia-hypercalciuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria

\Urine finding\Finding of urine substance level\...

\Urine substance level above reference range (finding)\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria

\Urine electrolyte levels - finding\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of urine substance level\Urine substance level above reference range (finding)\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Finding of substance level (finding)\Finding of urine substance level\Urine electrolyte levels - finding\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Finding of substance level (finding)\Electrolyte levels - finding\Urine electrolyte levels - finding\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Finding of substance level (finding)\Electrolyte levels - finding\Electrolytes outside reference range\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria

\Measurement finding outside reference range\Measurement finding above reference range\Urine substance level above reference range (finding)\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Measurement finding outside reference range\Electrolytes outside reference range\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria

\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria\Familial hypomagnesemia-hypercalciuria
\Disease\Metabolic disease\Metabolic disorder of transport\Primary hypomagnesemia\Familial hypomagnesemia-hypercalciuria
\Disease\Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder (disorder)\Hypomagnesaemia\Primary hypomagnesemia\Familial hypomagnesemia-hypercalciuria
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypercalciuria\Familial hypomagnesemia-hypercalciuria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

83331018 Familial hypomagnesemia-hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

495568015 Familial hypomagnesaemia-hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

787772013 Familial hypomagnesemia-hypercalciuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4553351000241110 hypercalciurie hypomagnésémie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypomagnesemia-hypercalciuria	Is a	Hypercalciuria	true	Inferred relationship	Some
Familial hypomagnesemia-hypercalciuria	Is a	Primary hypomagnesemia	true	Inferred relationship	Some
Familial hypomagnesemia-hypercalciuria	Finding site	Urinary tract structure	false	Inferred relationship	Some
Familial hypomagnesemia-hypercalciuria	Finding site	Urinary tract includes entire kidney and the urinary tract proper which relate to the ureter, bladder and urethra.	true	Inferred relationship	Some	1
Familial hypomagnesemia-hypercalciuria	Interprets	Calcium measurement, urine	true	Inferred relationship	Some	2
Familial hypomagnesemia-hypercalciuria	Has interpretation	Above reference range	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	False	Familial hypomagnesemia-hypercalciuria	Inferred relationship	Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia, characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.	Is a	False	Familial hypomagnesemia-hypercalciuria	Inferred relationship	Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)	Is a	True	Familial hypomagnesemia-hypercalciuria	Inferred relationship	Some

This concept is not in any reference sets