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Terminology chevron_right Concepts chevron_right 414393003

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414393003
The component that hold information about this concept.
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)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Hereditary disorder of cellular element of blood (disorder)

SCTID: 414393003, Defined, Active


414393003|Hereditary disorder of cellular element of blood (disorder)|
  • en Hereditary disorder of cellular element of blood
  • en Hereditary disorder of cellular element of blood (disorder)

414393003 |Hereditary disorder of cellular element of blood (disorder)|

=== 363137000 |Hereditary disorder by system (disorder)| +
    414022008 |Disorder of cellular component of blood (disorder)| :
        { 363698007 |Finding site (attribute)| = 91689009 |Body system structure (body structure)| }
Active

2534319013 - Hereditary disorder of cellular element of blood (en) View

2534319013
en
Synonym (core metadata concept)
Hereditary disorder of cellular element of blood
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

2530854017 - Hereditary disorder of cellular element of blood (disorder) (en) View

2530854017
en
Fully specified name (core metadata concept)
Hereditary disorder of cellular element of blood (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

414022008 View

414022008
Disorder of cellular component of blood (disorder)
Blood disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363137000 View

363137000
Hereditary disorder by system (disorder)
Hereditary disorder by system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

1237417007 View

1237417007
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder)
Congenital disorder of glycosylation type 1z
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

765327005 View

765327005
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)|
True

724138007 View

724138007
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)
Myopathy, lactic acidosis and sideroblastic anemia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

726669007 View

726669007
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
Yoshimura takeshita syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

234469001 View

234469001
Inherited platelet disorder (disorder)
Hereditary thrombocytopathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

414394009 View

414394009
Hereditary red blood cell disorder (disorder)
Hereditary red blood cell disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

414395005 View

414395005
Hereditary white blood cell disorder (disorder)
Hereditary white blood cell disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

389214003 View

389214003
Diaphyseal dysplasia with anemia (disorder)
Ghosal syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

71988008 View

71988008
Aase syndrome (disorder)
Aase syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

237617006 View

237617006
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder)
Rogers syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True
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