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1304111007: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5309318012 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309319016 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309320010 Primary hypomagnesaemia with hypercalciuria and nephrocalcinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309321014 FHHNC - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309322019 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309323012 FHHNC - familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309324018 Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309325017 Michellis Castrillo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a Familial hypomagnesemia-hypercalciuria true Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a Nephrocalcinosis true Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Finding site Structure of parenchyma of kidney true Inferred relationship Some 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Interprets Calcium measurement, urine true Inferred relationship Some 2
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Has interpretation Above reference range true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) Is a True Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a True Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Inferred relationship Some

This concept is not in any reference sets

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