717787005: Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (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 the urinary system\Hereditary disorder of the urinary system\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 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\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 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\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 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\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 hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary 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\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\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 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\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 hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Primary hypomagnesemia\Familial hypomagnesemia-hypercalciuria\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 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 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

12132661000172118 hypomagnésémie familiale avec hypercalciurie et néphrocalcinose avec atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12132671000172110 FHHNC (familial hypomagnesemia hypercalciuria nephrocalcinosis) avec atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5231821000172116 familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5231831000172118 familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinos met ernstige aantasting van oog nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5231841000172113 FHHNC met ernstige oculaire betrokkenheid nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

14612591000172111 familiale hypomagnesiëmie met hypercalciurie en nefrocalcinos met ernstige aantasting van oog nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14612601000172118 familiale hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian 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	true	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	Hereditary disorder of the urinary system	true	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Finding site	Urinary system structure (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
12132661000172118	hypomagnésémie familiale avec hypercalciurie et néphrocalcinose avec atteinte oculaire sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12132671000172110	FHHNC (familial hypomagnesemia hypercalciuria nephrocalcinosis) avec atteinte oculaire sévère	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5231821000172116	familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5231831000172118	familiaire hypomagnesiëmie met hypercalciurie en nefrocalcinos met ernstige aantasting van oog	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5231841000172113	FHHNC met ernstige oculaire betrokkenheid	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
14612591000172111	familiale hypomagnesiëmie met hypercalciurie en nefrocalcinos met ernstige aantasting van oog	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14612601000172118	familiale hypomagnesiëmie met hypercalciurie en nefrocalcinose met ernstige oculaire betrokkenheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)