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Terminology chevron_right Concepts chevron_right 724275005

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724275005
The component that hold information about this concept.
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
Primary immunodeficiency due to mcm4 deficiency
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

Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)

SCTID: 724275005, Primitive, Active


724275005|Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)|
  • en Primary immunodeficiency due to mcm4 deficiency
  • en Primary immunodeficiency due to mcm4 (mini-chromosome maintenance complex component 4) deficiency
  • en Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
  • en Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)

724275005 |Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)|

<<< 36138009 |Congenital immunodeficiency disease (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    234632005 |Immunodeficiency associated with chromosomal abnormality (disorder)| +
    363104002 |Hereditary disorder of endocrine system (disorder)| +
    363138005 |Hereditary disorder of immune system (disorder)| +
    386584007 |Adrenal cortical hypofunction (disorder)| +
    442459007 |Combined immunodeficiency disease (disorder)|
        { 42752001 |Due to (attribute)| = 409709004 |Chromosomal disorder (disorder)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 68594002 |Adrenal cortex structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3481763013 - Primary immunodeficiency due to MCM4 deficiency (en) View

3481763013
en
Synonym (core metadata concept)
Primary immunodeficiency due to MCM4 deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3481762015 - Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency (en) View

3481762015
en
Synonym (core metadata concept)
Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3481761010 - Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (en) View

3481761010
en
Synonym (core metadata concept)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3481760011 - Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) (en) View

3481760011
en
Fully specified name (core metadata concept)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (6874541021) - 724275005 -> 409709004 (42752001) View

42752001 |Due to (attribute)|
409709004 |Chromosomal disorder (disorder)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11170079023) - 724275005 -> 769247005 (370135005) View

370135005 |Pathological process (attribute)|
769247005 |Abnormal immune process (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6874549023) - 724275005 -> 106182000 (363705008) View

363705008 |Has definitional manifestation (attribute)|
106182000 |Immune system finding (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6874542025) - 724275005 -> 85995004 (116680003) View

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

Relationship (6874543024) - 724275005 -> 234632005 (116680003) View

116680003 |Is a (attribute)|
234632005 |Immunodeficiency associated with chromosomal abnormality (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6874544029) - 724275005 -> 363104002 (116680003) View

116680003 |Is a (attribute)|
363104002 |Hereditary disorder of endocrine system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6874545028) - 724275005 -> 363138005 (116680003) View

116680003 |Is a (attribute)|
363138005 |Hereditary disorder of immune system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6874546027) - 724275005 -> 386584007 (116680003) View

116680003 |Is a (attribute)|
386584007 |Adrenal cortical hypofunction (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6874547020) - 724275005 -> 442459007 (116680003) View

116680003 |Is a (attribute)|
442459007 |Combined immunodeficiency disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7112524028) - 724275005 -> 36138009 (116680003) View

116680003 |Is a (attribute)|
36138009 |Congenital immunodeficiency disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7112525027) - 724275005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7112526026) - 724275005 -> 68594002 (363698007) View

363698007 |Finding site (attribute)|
68594002 |Adrenal cortex structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

442459007 View

442459007
Combined immunodeficiency disease (disorder)
Combined immunodeficiency disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

386584007 View

386584007
Adrenal cortical hypofunction (disorder)
Hypoadrenocorticism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

36138009 View

36138009
Congenital immunodeficiency disease (disorder)
Congenital immunodeficiency disease
900000000000073002 |Sufficiently defined by necessary conditions 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

234632005 View

234632005
Immunodeficiency associated with chromosomal abnormality (disorder)
Immunodeficiency associated with chromosomal abnormality
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363104002 View

363104002
Hereditary disorder of endocrine system (disorder)
Hereditary disorder of endocrine system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363138005 View

363138005
Hereditary disorder of immune system (disorder)
Hereditary disorder of immune system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True
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