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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3446857014 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446858016 Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446859012 Renal hypomagnesemia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446860019 Renal hypomagnesaemia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403360015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403361016 Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesaemia, characterised by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3446856017 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446857014 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446858016 Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446859012 Renal hypomagnesemia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446860019 Renal hypomagnesaemia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403360015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403361016 Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesaemia, characterised by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451841001000119 Familiäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose ohne schwere Augenbeteiligung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884881000172117 hypomagnésémie primaire familiale avec hypercalciurie et néphrocalcinose sans atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975071000172113 FHHNC sans atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884881000172117 hypomagnésémie primaire familiale avec hypercalciurie et néphrocalcinose sans atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975071000172113 FHHNC sans atteinte oculaire sévère fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451841001000119 Familiäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose ohne schwere 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 primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Familial hypomagnesaemia-hypercalciuria false Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Nephrocalcinosis false Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Hereditary nephropathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Finding site Structure of parenchyma of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Interprets Calcium measurement, urine true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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