717787005: familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid (aandoening)

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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\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 the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\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 the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\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 the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\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 the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\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 the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\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 the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria (disorder)\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria (disorder)\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria (disorder)\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria (disorder)\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Degenerative disorder\Calcinosis\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria (disorder)\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Kidney lesion\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria (disorder)\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Primary hypomagnesemia\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Metabolic disease\Metabolic renal disease\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder (disorder)\Hypomagnesaemia\Primary hypomagnesemia\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypercalciuria (disorder)\Familial hypomagnesemia-hypercalciuria\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Nephrocalcinosis\Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3310253017 Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3310254011 Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3311717010 Familial hypomagnesaemia hypercalciuria nephrocalcinosis with severe ocular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6991951000146116 familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6991961000146118 familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6991971000146112 familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinos met ernstige aantasting van oog nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6991981000146114 FHHNC met ernstige oculaire betrokkenheid nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Familial hypomagnesemia-hypercalciuria	false	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Finding site	Urinary system structure (body structure)	false	Inferred relationship	Some	1
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Anomaly of eye (disorder)	true	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)	true	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	2
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Finding site	Structure of parenchyma of kidney	true	Inferred relationship	Some	1
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	1
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets