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717787005: 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
6167881000241112 hypomagnésémie familiale avec hypercalciurie et néphrocalcinose avec atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6167891000241114 FHHNC (familial hypomagnesemia hypercalciuria nephrocalcinosis) avec atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432591001000118 Primäre Hypomagnesiämie mit Hyperkalziurie, Nephrokalzinoseund schwerer Augenbeteiligung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

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 tract includes entire kidney and the urinary tract proper which relate to the ureter, bladder and urethra. 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 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 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 Deposition of calcium in normally non calcified tissue true Inferred relationship Some 1
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) Interprets Calcium measurement, urine true Inferred relationship Some 3
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) Has interpretation Above reference range true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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