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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
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
5309326016 A form of familial primary hypomagnesemia (FPH) characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes are described: with severe ocular involvement and without severe ocular involvement. The median age of onset ranges from 1 to 8 years. The disease is caused by mutations in the genes CLDN16 (3q28) and CLDN19 (1p34.2), encoding claudin-16 and claudin-19 respectively. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309327013 A form of familial primary hypomagnesaemia (FPH) characterised by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes are described: with severe ocular involvement and without severe ocular involvement. The median age of onset ranges from 1 to 8 years. The disease is caused by mutations in the genes CLDN16 (3q28) and CLDN19 (1p34.2), encoding claudin-16 and claudin-19 respectively. Transmission is autosomal recessive. en Definition 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 hypomagnesaemia-hypercalciuria true Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a Nephrocalcinosis true Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (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 (disorder) Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Interprets Calcium measurement, urine true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement Is a True Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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