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Terminology chevron_right Concepts chevron_right 1304111007

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1304111007
The component that hold information about this concept.
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)
Michellis castrillo syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)

SCTID: 1304111007, Primitive, Active


1304111007|Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)|
  • en Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis
  • en Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
  • en Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)
  • en Fhhnc - familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis
  • en Fhhnc - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
  • en Michellis castrillo syndrome
  • en Primary hypomagnesaemia with hypercalciuria and nephrocalcinosis
  • en Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

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

<<< 50029007 |Familial hypomagnesemia-hypercalciuria (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    367591000119105 |Hereditary nephropathy (disorder)| +
    48638002 |Nephrocalcinosis (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 18115005 |Pathologic calcification, calcified structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 29704000 |Structure of parenchyma of kidney (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 73668004 |Calcium measurement, urine (procedure)| }
Active

5309324018 - Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis (en) View

5309324018
en
Synonym (core metadata concept)
Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5309322019 - Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (en) View

5309322019
en
Synonym (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5309319016 - Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) (en) View

5309319016
en
Fully specified name (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5309323012 - FHHNC - familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis (en) View

5309323012
en
Synonym (core metadata concept)
FHHNC - familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5309321014 - FHHNC - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (en) View

5309321014
en
Synonym (core metadata concept)
FHHNC - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5309325017 - Michellis Castrillo syndrome (en) View

5309325017
en
Synonym (core metadata concept)
Michellis Castrillo syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5309320010 - Primary hypomagnesaemia with hypercalciuria and nephrocalcinosis (en) View

5309320010
en
Synonym (core metadata concept)
Primary hypomagnesaemia with hypercalciuria and nephrocalcinosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5309318012 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis (en) View

5309318012
en
Synonym (core metadata concept)
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (16198194024) - 1304111007 -> 73668004 (363714003) View

363714003 |Interprets (attribute)|
73668004 |Calcium measurement, urine (procedure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16198195020) - 1304111007 -> 281302008 (363713009) View

363713009 |Has interpretation (attribute)|
281302008 |Above reference range (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15905453021) - 1304111007 -> 50029007 (116680003) View

116680003 |Is a (attribute)|
50029007 |Familial hypomagnesemia-hypercalciuria (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15905454026) - 1304111007 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15905467028) - 1304111007 -> 367591000119105 (116680003) View

116680003 |Is a (attribute)|
367591000119105 |Hereditary nephropathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15905468022) - 1304111007 -> 48638002 (116680003) View

116680003 |Is a (attribute)|
48638002 |Nephrocalcinosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15905469025) - 1304111007 -> 29704000 (363698007) View

363698007 |Finding site (attribute)|
29704000 |Structure of parenchyma of kidney (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15905470029) - 1304111007 -> 18115005 (116676008) View

116676008 |Associated morphology (attribute)|
18115005 |Pathologic calcification, calcified structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

48638002 View

48638002
Nephrocalcinosis (disorder)
Nephrocalcinosis
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

367591000119105 View

367591000119105
Hereditary nephropathy (disorder)
Hereditary nephropathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

50029007 View

50029007
Familial hypomagnesemia-hypercalciuria (disorder)
Familial hypomagnesemia-hypercalciuria
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

725033008 View

725033008
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder)
Renal hypomagnesemia type 3
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

717787005 View

717787005
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (06aacc7e-8405-523d-b038-2d3658e3cae9) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
N29.8
TRUE
ALWAYS N29.8 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|

ExtendedMap object (3a46d205-4cf8-539e-86bc-4238382bbbb8) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E83.5
TRUE
ALWAYS E83.5
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|

ExtendedMap object (f3f50a85-5a03-5cbc-af75-3d3b6b689a40) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E83.4
TRUE
ALWAYS E83.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
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