Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 765327005

Production
add
765327005
The component that hold information about this concept.
Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)
Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome
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

Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)

SCTID: 765327005, Primitive, Active


765327005|Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)|
  • en Congenital sideroblastic anaemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome
  • en Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome
  • en Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)

765327005 |Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)|

<<< 63565007 |Congenital anemia (disorder)| +
    363138005 |Hereditary disorder of immune system (disorder)| +
    36138009 |Congenital immunodeficiency disease (disorder)| +
    234632005 |Immunodeficiency associated with chromosomal abnormality (disorder)| +
    414030009 |Disorder of immune structure (disorder)| +
    41841004 |Sideroblastic anemia (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    414393003 |Hereditary disorder of cellular element of blood (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 42752001 |Due to (attribute)| = 409709004 |Chromosomal disorder (disorder)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
Active

3657923013 - Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (en) View

3657923013
en
Synonym (core metadata concept)
Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3657922015 - Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (en) View

3657922015
en
Synonym (core metadata concept)
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3657924019 - Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) (en) View

3657924019
en
Fully specified name (core metadata concept)
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (9266305026) - 765327005 -> 409709004 (42752001) View

42752001 |Due to (attribute)|
409709004 |Chromosomal disorder (disorder)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11171495021) - 765327005 -> 769247005 (370135005) View

370135005 |Pathological process (attribute)|
769247005 |Abnormal immune process (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9266306025) - 765327005 -> 363138005 (116680003) View

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

Relationship (9266307023) - 765327005 -> 36138009 (116680003) View

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

Relationship (9266309021) - 765327005 -> 234632005 (116680003) View

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

Relationship (9266310027) - 765327005 -> 414030009 (116680003) View

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

Relationship (9266311028) - 765327005 -> 41841004 (116680003) View

116680003 |Is a (attribute)|
41841004 |Sideroblastic anemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9266312024) - 765327005 -> 85995004 (116680003) View

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

Relationship (9266315021) - 765327005 -> 281300000 (363713009) View

363713009 |Has interpretation (attribute)|
281300000 |Below reference range (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9266317029) - 765327005 -> 14089001 (363714003) View

363714003 |Interprets (attribute)|
14089001 |Red blood cell count (procedure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9269335021) - 765327005 -> 281300000 (363713009) View

363713009 |Has interpretation (attribute)|
281300000 |Below reference range (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9273628025) - 765327005 -> 255399007 (246454002) View

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

Relationship (9273629022) - 765327005 -> 116003000 (363698007) View

363698007 |Finding site (attribute)|
116003000 |Structure of immune system (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9273630028) - 765327005 -> 441689006 (363714003) View

363714003 |Interprets (attribute)|
441689006 |Measurement of total hemoglobin concentration (procedure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9338149024) - 765327005 -> 414393003 (116680003) View

116680003 |Is a (attribute)|
414393003 |Hereditary disorder of cellular element of blood (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9465067024) - 765327005 -> 63565007 (116680003) View

116680003 |Is a (attribute)|
63565007 |Congenital anemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

63565007 View

63565007
Congenital anemia (disorder)
Congenital anemia
900000000000073002 |Sufficiently defined by necessary conditions 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

414393003 View

414393003
Hereditary disorder of cellular element of blood (disorder)
Hereditary disorder of cellular element of blood
900000000000073002 |Sufficiently defined by necessary conditions 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

41841004 View

41841004
Sideroblastic anemia (disorder)
Sideroblastic anemia
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

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

ExtendedMap object (a6b66c8a-3af1-5342-865e-eccf5b26f8ad) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
D64.0
TRUE
ALWAYS D64.0 | 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)|
esc