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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


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 hypomagnesemia-hypercalciuria false Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Nephrocalcinosis false Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a Hereditary nephropathy (disorder) false Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Finding site Kidney structure false Inferred relationship Some 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Finding site Structure of parenchyma of kidney true Inferred relationship Some 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 Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Interprets Calcium measurement, urine true Inferred relationship Some 2
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Has interpretation Above reference range true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

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