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Terminology chevron_right Concepts chevron_right 191002000

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191002000
The component that hold information about this concept.
Immunodeficiency by defective expression of major histocompatibility complex class ii (disorder)
Bare lymphocyte syndrome type 2
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

Immunodeficiency by defective expression of major histocompatibility complex class ii (disorder)

SCTID: 191002000, Primitive, Active


191002000|Immunodeficiency by defective expression of major histocompatibility complex class ii (disorder)|
  • en Bare lymphocyte syndrome type 2
  • en Bare lymphocyte syndrome type ii
  • en Immunodeficiency by defective expression of major histocompatibility complex class ii
  • en Immunodeficiency by defective expression of major histocompatibility complex class ii (disorder)
  • en Mhc (major histocompatibility complex) class ii deficiency
  • en Major histocompatibility complex class ii deficiency

191002000 |Immunodeficiency by defective expression of major histocompatibility complex class ii (disorder)|

<<< 442459007 |Combined immunodeficiency disease (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)|
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
Active

5407560015 - Bare lymphocyte syndrome type 2 (en) View

5407560015
en
Synonym (core metadata concept)
Bare lymphocyte syndrome type 2
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5407562011 - Bare lymphocyte syndrome type II (en) View

5407562011
en
Synonym (core metadata concept)
Bare lymphocyte syndrome type II
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5407563018 - Immunodeficiency by defective expression of major histocompatibility complex class II (en) View

5407563018
en
Synonym (core metadata concept)
Immunodeficiency by defective expression of major histocompatibility complex class II
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5407559013 - Immunodeficiency by defective expression of major histocompatibility complex class II (disorder) (en) View

5407559013
en
Fully specified name (core metadata concept)
Immunodeficiency by defective expression of major histocompatibility complex class II (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

574650017 - Major histocompatibility complex class II deficiency (disorder) (en) View

574650017
en
Fully specified name (core metadata concept)
Major histocompatibility complex class II deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

5407561016 - MHC (major histocompatibility complex) class II deficiency (en) View

5407561016
en
Synonym (core metadata concept)
MHC (major histocompatibility complex) class II deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

293710019 - Major histocompatibility complex class II deficiency (en) View

293710019
en
Synonym (core metadata concept)
Major histocompatibility complex class II deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (326101028) - 191002000 -> 31323000 (116680003) View

116680003 |Is a (attribute)|
31323000 |Severe combined immunodeficiency disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (959620022) - 191002000 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (959621021) - 191002000 -> 116003000 (363698007) View

363698007 |Finding site (attribute)|
116003000 |Structure of immune system (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2700298022) - 191002000 -> 414030009 (116680003) View

116680003 |Is a (attribute)|
414030009 |Disorder of immune structure (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16228589024) - 191002000 -> 442459007 (116680003) View

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

Relationship (16228590026) - 191002000 -> 85995004 (116680003) View

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

Relationship (11171825021) - 191002000 -> 769247005 (370135005) View

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

Relationship (2742440021) - 191002000 -> 106182000 (363705008) View

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

Relationship (959622025) - 191002000 -> 24484000 (246112005) View

246112005 |Severity (attribute)|
24484000 |Severe (severity modifier) (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

442459007 View

442459007
Combined immunodeficiency disease (disorder)
Combined immunodeficiency disease
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

1351501003 View

1351501003
Immunodeficiency by defective expression of major histocompatibility complex class ii due to regulatory factor x associated protein mutation (disorder)
Major histocompatibility complex class ii deficiency due to rfxap mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351502005 View

1351502005
Immunodeficiency by defective expression of major histocompatibility complex class ii due to class ii major histocompatibility complex transactivator mutation (disorder)
Major histocompatibility complex class ii deficiency due to ciita mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351503000 View

1351503000
Immunodeficiency by defective expression of major histocompatibility complex class ii due to regulatory factor x associated ankyrin containing protein mutation (disorder)
Major histocompatibility complex class ii deficiency due to rfxank mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1351504006 View

1351504006
Immunodeficiency by defective expression of major histocompatibility complex class ii due to regulatory factor x5 mutation (disorder)
Major histocompatibility complex class ii deficiency due to rfx5 mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (68545fb7-4ec6-57f5-9f69-2fa8c041b678) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
D81.7
TRUE
ALWAYS D81.7
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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