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Terminology chevron_right Concepts chevron_right 403835002

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403835002
The component that hold information about this concept.
X-linked hyper-igm syndrome (disorder)
Hyper-igm syndrome type 1
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

X-linked hyper-igm syndrome (disorder)

SCTID: 403835002, Primitive, Active


403835002|X-linked hyper-igm syndrome (disorder)|
  • en Hyper-igm syndrome due to cd40l deficiency
  • en Hyper-igm syndrome due to cd40 ligand deficiency
  • en Hyper-igm syndrome type 1
  • en X-linked hyper-immunoglobulin m syndrome
  • en X-linked hyper-immunoglobulin m syndrome (disorder)
  • en X-linked with hyper-igm immunodeficiency
  • en X-linked hyper-igm syndrome

403835002 |X-linked hyper-igm syndrome (disorder)|

<<< 1162976004 |X-linked recessive hereditary disease (disorder)| +
    783248004 |Hyperimmunoglobulin m syndrome with susceptibility to opportunistic infection (disorder)|
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
Active

5407850017 - Hyper-IgM syndrome due to CD40L deficiency (en) View

5407850017
en
Synonym (core metadata concept)
Hyper-IgM syndrome due to CD40L deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5407848013 - Hyper-IgM syndrome due to CD40 ligand deficiency (en) View

5407848013
en
Synonym (core metadata concept)
Hyper-IgM syndrome due to CD40 ligand deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5407849017 - Hyper-IgM syndrome type 1 (en) View

5407849017
en
Synonym (core metadata concept)
Hyper-IgM syndrome type 1
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

1771761011 - X-linked hyper-IgM syndrome (disorder) (en) View

1771761011
en
Fully specified name (core metadata concept)
X-linked hyper-IgM syndrome (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
False

2970494019 - X-linked hyper-immunoglobulin M syndrome (en) View

2970494019
en
Synonym (core metadata concept)
X-linked hyper-immunoglobulin M syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

2970489019 - X-linked hyper-immunoglobulin M syndrome (disorder) (en) View

2970489019
en
Fully specified name (core metadata concept)
X-linked hyper-immunoglobulin M syndrome (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

1787887015 - X-linked with hyper-IgM immunodeficiency (en) View

1787887015
en
Synonym (core metadata concept)
X-linked with hyper-IgM immunodeficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

1782839018 - X-linked hyper-IgM syndrome (en) View

1782839018
en
Synonym (core metadata concept)
X-linked hyper-IgM syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (2250521024) - 403835002 -> 82286005 (116680003) View

116680003 |Is a (attribute)|
82286005 |Hyperimmunoglobulin m syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2291262029) - 403835002 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16229486020) - 403835002 -> 783248004 (116680003) View

116680003 |Is a (attribute)|
783248004 |Hyperimmunoglobulin m syndrome with susceptibility to opportunistic infection (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6999695027) - 403835002 -> 128430005 (116680003) View

116680003 |Is a (attribute)|
128430005 |X-linked hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14022202021) - 403835002 -> 1162976004 (116680003) View

116680003 |Is a (attribute)|
1162976004 |X-linked recessive hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11171032027) - 403835002 -> 769247005 (370135005) View

370135005 |Pathological process (attribute)|
769247005 |Abnormal immune process (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2755635022) - 403835002 -> 106182000 (363705008) View

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

Relationship (2291263023) - 403835002 -> 116003000 (363698007) View

363698007 |Finding site (attribute)|
116003000 |Structure of immune system (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

1162976004 View

1162976004
X-linked recessive hereditary disease (disorder)
X-linked recessive hereditary disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

783248004 View

783248004
Hyperimmunoglobulin m syndrome with susceptibility to opportunistic infection (disorder)
Hyper-igm syndrome with susceptibility to opportunistic infections
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (d936caa6-cf72-54be-971f-77eae397da08) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
D80.5
TRUE
ALWAYS D80.5 | 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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