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Terminology chevron_right Concepts chevron_right 1351962002

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1351962002
The component that hold information about this concept.
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)
Egf-related primary hypomagnesemia with intellectual disability
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

Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)

SCTID: 1351962002, Primitive, Active


1351962002|Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)|
  • en Egf-related primary hypomagnesaemia with intellectual disability
  • en Egf-related primary hypomagnesemia with intellectual disability
  • en Epidermal growth factor-related primary hypomagnesaemia with intellectual disability
  • en Epidermal growth factor-related primary hypomagnesemia with intellectual disability
  • en Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)

1351962002 |Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)|

<<< 106000008 |Metabolic renal disease (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    367591000119105 |Hereditary nephropathy (disorder)| +
    80710001 |Primary hypomagnesemia (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    95568003 |Renal tubular disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        { 363698007 |Finding site (attribute)| = 58471003 |Renal tubule structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

5418536010 - EGF-related primary hypomagnesaemia with intellectual disability (en) View

5418536010
en
Synonym (core metadata concept)
EGF-related primary hypomagnesaemia with intellectual disability
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

5418538011 - EGF-related primary hypomagnesemia with intellectual disability (en) View

5418538011
en
Synonym (core metadata concept)
EGF-related primary hypomagnesemia with intellectual disability
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

5418534013 - Epidermal growth factor-related primary hypomagnesaemia with intellectual disability (en) View

5418534013
en
Synonym (core metadata concept)
Epidermal growth factor-related primary hypomagnesaemia with intellectual disability
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5418537018 - Epidermal growth factor-related primary hypomagnesemia with intellectual disability (en) View

5418537018
en
Synonym (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5418535014 - Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) (en) View

5418535014
en
Fully specified name (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16237994020) - 1351962002 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16317013023) - 1351962002 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16237993025) - 1351962002 -> 106000008 (116680003) View

116680003 |Is a (attribute)|
106000008 |Metabolic renal disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16237995021) - 1351962002 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16237996022) - 1351962002 -> 367591000119105 (116680003) View

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

Relationship (16237997029) - 1351962002 -> 80710001 (116680003) View

116680003 |Is a (attribute)|
80710001 |Primary hypomagnesemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16237998023) - 1351962002 -> 85995004 (116680003) View

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

Relationship (16237999026) - 1351962002 -> 95568003 (116680003) View

116680003 |Is a (attribute)|
95568003 |Renal tubular disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16238000021) - 1351962002 -> 58471003 (363698007) View

363698007 |Finding site (attribute)|
58471003 |Renal tubule structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16238001020) - 1351962002 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16238002029) - 1351962002 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16238003023) - 1351962002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16238004028) - 1351962002 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16238005027) - 1351962002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

106000008 View

106000008
Metabolic renal disease (disorder)
Metabolic renal disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
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

95568003 View

95568003
Renal tubular disorder (disorder)
Rối loạn ống thận
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

80710001 View

80710001
Primary hypomagnesemia (disorder)
Primary hypomagnesemia
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

ExtendedMap object (cb6def37-dd0f-5567-91f1-389d73f75fc2) 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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