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Terminology chevron_right Concepts chevron_right 403836001

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403836001
The component that hold information about this concept.
Autosomal recessive hyper- immunoglobulin m syndrome (disorder)
Autosomal recessive hyper-igm syndrome
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Autosomal recessive hyper- immunoglobulin m syndrome (disorder)

SCTID: 403836001, Defined, Active


403836001|Autosomal recessive hyper- immunoglobulin m syndrome (disorder)|
  • en Autosomal recessive hyperimmunoglobulin m syndrome
  • en Autosomal recessive hyperimmunoglobulin m syndrome (disorder)
  • en Autosomal recessive hyper- immunoglobulin m syndrome
  • en Autosomal recessive hyper-igm syndrome

403836001 |Autosomal recessive hyper- immunoglobulin m syndrome (disorder)|

=== 82286005 |Hyperimmunoglobulin m syndrome (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)|
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
Active

3424905018 - Autosomal recessive hyperimmunoglobulin M syndrome (en) View

3424905018
en
Synonym (core metadata concept)
Autosomal recessive hyperimmunoglobulin M syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

2968656011 - Autosomal recessive hyper- immunoglobulin M syndrome (disorder) (en) View

2968656011
en
Fully specified name (core metadata concept)
Autosomal recessive hyper- immunoglobulin M syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

3424904019 - Autosomal recessive hyperimmunoglobulin M syndrome (disorder) (en) View

3424904019
en
Fully specified name (core metadata concept)
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

1771762016 - Autosomal recessive hyper-IgM syndrome (disorder) (en) View

1771762016
en
Fully specified name (core metadata concept)
Autosomal recessive hyper-IgM syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

2968614012 - Autosomal recessive hyper- immunoglobulin M syndrome (en) View

2968614012
en
Synonym (core metadata concept)
Autosomal recessive hyper- immunoglobulin M syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

1782840016 - Autosomal recessive hyper-IgM syndrome (en) View

1782840016
en
Synonym (core metadata concept)
Autosomal recessive hyper-IgM syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

Relationship (2291265027) - 403836001 -> 255399007 (246454002) View

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

Relationship (11170109021) - 403836001 -> 769247005 (370135005) View

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

Relationship (2755636023) - 403836001 -> 106182000 (363705008) View

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

Relationship (6817034028) - 403836001 -> 85995004 (116680003) View

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

Relationship (2291264028) - 403836001 -> 116003000 (363698007) View

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

Relationship (2250522028) - 403836001 -> 82286005 (116680003) View

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

82286005 View

82286005
Hyperimmunoglobulin m syndrome (disorder)
Hyper igm syndrome
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

1362020006 View

1362020006
Hyperimmunoglobulin m syndrome type 3 (disorder)
Hyperimmunoglobulin m syndrome type 3
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351569004 View

1351569004
Autosomal recessive hyperimmunoglobulin m syndrome due to uracil dna glycosylase deficiency (disorder)
Hyper-igm syndrome type 5
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351572006 View

1351572006
Autosomal recessive hyperimmunoglobulin m syndrome due to activation induced cytidine deaminase deficiency (disorder)
Autosomal recessive hyper-igm syndrome type 2
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351573001 View

1351573001
Autosomal recessive hyperimmunoglobulin m syndrome due to april deficiency (disorder)
Hyper igm syndrome due to tnfsf13
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351575008 View

1351575008
Autosomal recessive hyperimmunoglobulin m syndrome due to catenin beta like 1deficiency (disorder)
Hyper igm syndrome due to ctnnbl1
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351576009 View

1351576009
Autosomal recessive hyperimmunoglobulin m syndrome due to mutator s homolog 6 deficiency (disorder)
Hyper igm syndrome due to msh6
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351577000 View

1351577000
Autosomal recessive hyperimmunoglobulin m syndrome due to ino80 complex atpase subunit deficiency (disorder)
Hyper igm syndrome due to ino80
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (9eb40019-6280-5860-afa6-48264e9c3516) View

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