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Terminology chevron_right Concepts chevron_right 234638009

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234638009
The component that hold information about this concept.
Microcephaly, normal intelligence and immunodeficiency (disorder)
Seemanova syndrome ii
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

Microcephaly, normal intelligence and immunodeficiency (disorder)

SCTID: 234638009, Primitive, Active


234638009|Microcephaly, normal intelligence and immunodeficiency (disorder)|
  • en Microcephaly, normal intelligence and immunodeficiency
  • en Microcephaly, normal intelligence and immunodeficiency (disorder)
  • en Nbs - nijmegen breakage syndrome
  • en Nijmegen breakage syndrome
  • en Seemanova syndrome ii

234638009 |Microcephaly, normal intelligence and immunodeficiency (disorder)|

<<< 414030009 |Disorder of immune structure (disorder)| +
    234632005 |Immunodeficiency associated with chromosomal abnormality (disorder)| +
    363138005 |Hereditary disorder of immune system (disorder)| +
    699346009 |Hereditary cancer-predisposing syndrome (disorder)| :
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 47429007 |Associated with (attribute)| = 409709004 |Chromosomal disorder (disorder)| }
Active

351577014 - Microcephaly, normal intelligence and immunodeficiency (en) View

351577014
en
Synonym (core metadata concept)
Microcephaly, normal intelligence and immunodeficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

622985016 - Microcephaly, normal intelligence and immunodeficiency (disorder) (en) View

622985016
en
Fully specified name (core metadata concept)
Microcephaly, normal intelligence and immunodeficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

351579012 - NBS - Nijmegen breakage syndrome (en) View

351579012
en
Synonym (core metadata concept)
NBS - Nijmegen breakage syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

351578016 - Nijmegen breakage syndrome (en) View

351578016
en
Synonym (core metadata concept)
Nijmegen breakage syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

351580010 - Seemanova syndrome II (en) View

351580010
en
Synonym (core metadata concept)
Seemanova syndrome II
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (514442026) - 234638009 -> 116003000 (363698007) View

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

Relationship (2712297028) - 234638009 -> 409709004 (47429007) View

47429007 |Associated with (attribute)|
409709004 |Chromosomal disorder (disorder)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11170127024) - 234638009 -> 769247005 (370135005) View

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

Relationship (2712296021) - 234638009 -> 106182000 (363705008) View

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

Relationship (4799012028) - 234638009 -> 363138005 (116680003) View

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

Relationship (4799013022) - 234638009 -> 699346009 (116680003) View

116680003 |Is a (attribute)|
699346009 |Hereditary cancer-predisposing syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2708340026) - 234638009 -> 414030009 (116680003) View

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

Relationship (48389022) - 234638009 -> 234632005 (116680003) View

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

699346009 View

699346009
Hereditary cancer-predisposing syndrome (disorder)
Hereditary neoplastic syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

414030009 View

414030009
Disorder of immune structure (disorder)
Disorder of immune structure
900000000000073002 |Sufficiently defined by necessary conditions 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

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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