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Terminology chevron_right Concepts chevron_right 47526003

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47526003
The component that hold information about this concept.
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)
Hnsha due to nadh diaphorase deficiency
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

Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)

SCTID: 47526003, Primitive, Active


47526003|Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)|
  • en Hereditary nonspherocytic haemolytic anaemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency
  • en Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency
  • en Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)
  • en Hereditary nonspherocytic haemolytic anaemia (hnsha) due to reduced nicotinamide adenine dinucleotide (nadh) diaphorase deficiency
  • en Hereditary nonspherocytic hemolytic anemia (hnsha) due to reduced nicotinamide adenine dinucleotide (nadh) diaphorase deficiency
  • en Hnsha due to nadh diaphorase deficiency

47526003 |Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)|

<<< 234401000 |Erythrocyte enzyme deficiency (disorder)| +
    111577008 |Anemia due to enzyme deficiency (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| +
    301317008 |Hereditary nonspherocytic hemolytic anemia (disorder)| +
    63565007 |Congenital anemia (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 52101004 |Present (qualifier value)|,
          363714003 |Interprets (attribute)| = 404227002 |Hemolysis (observable entity)| }
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 42752001 |Due to (attribute)| = 78548001 |Enzymopathy (disorder)| }
Active

3780604010 - Hereditary nonspherocytic haemolytic anaemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (en) View

3780604010
en
Synonym (core metadata concept)
Hereditary nonspherocytic haemolytic anaemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2913595016 - Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (en) View

2913595016
en
Synonym (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2913242015 - Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder) (en) View

2913242015
en
Fully specified name (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

2612396011 - Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH) diaphorase deficiency (disorder) (en) View

2612396011
en
Fully specified name (core metadata concept)
Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH) diaphorase deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

2620815012 - Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH) diaphorase deficiency (en) View

2620815012
en
Synonym (core metadata concept)
Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH) diaphorase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

2620816013 - Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH) diaphorase deficiency (en) View

2620816013
en
Synonym (core metadata concept)
Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH) diaphorase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

784994016 - HNSHA due to NADH diaphorase deficiency (disorder) (en) View

784994016
en
Fully specified name (core metadata concept)
HNSHA due to NADH diaphorase deficiency (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
False

79226018 - HNSHA due to NADH diaphorase deficiency (en) View

79226018
en
Synonym (core metadata concept)
HNSHA due to NADH diaphorase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (791418023) - 47526003 -> 41898006 (363698007) View

363698007 |Finding site (attribute)|
41898006 |Erythrocyte (cell)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (791420021) - 47526003 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2596729027) - 47526003 -> 78548001 (42752001) View

42752001 |Due to (attribute)|
78548001 |Enzymopathy (disorder)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9186455027) - 47526003 -> 84054007 (363714003) View

363714003 |Interprets (attribute)|
84054007 |Erythrocyte destruction, function (observable entity)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (11105284025) - 47526003 -> 52101004 (363713009) View

363713009 |Has interpretation (attribute)|
52101004 |Present (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11105285029) - 47526003 -> 404227002 (363714003) View

363714003 |Interprets (attribute)|
404227002 |Hemolysis (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2267407023) - 47526003 -> 62574001 (363705008) View

363705008 |Has definitional manifestation (attribute)|
62574001 |Erythropenia (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2733371020) - 47526003 -> 73320003 (363705008) View

363705008 |Has definitional manifestation (attribute)|
73320003 |Hemolysis (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6763875021) - 47526003 -> 281300000 (363713009) View

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

Relationship (6763876022) - 47526003 -> 14089001 (363714003) View

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

Relationship (6763877029) - 47526003 -> 281300000 (363713009) View

363713009 |Has interpretation (attribute)|
281300000 |Below reference range (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6763878023) - 47526003 -> 441689006 (363714003) View

363714003 |Interprets (attribute)|
441689006 |Measurement of total hemoglobin concentration (procedure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2733370021) - 47526003 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (225441024) - 47526003 -> 363136009 (116680003) View

116680003 |Is a (attribute)|
363136009 |Hereditary disorder of hematologic system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (225443022) - 47526003 -> 40888008 (116680003) View

116680003 |Is a (attribute)|
40888008 |Congenital anomaly of the hematopoietic system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2267406025) - 47526003 -> 57171008 (363698007) View

363698007 |Finding site (attribute)|
57171008 |Hematopoietic system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2692773029) - 47526003 -> 63565007 (116680003) View

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

Relationship (1768523029) - 47526003 -> 78548001 (363715002) View

363715002 |Associated etiologic finding (attribute)|
78548001 |Enzymopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (791419026) - 47526003 -> 57171008 (363698007) View

363698007 |Finding site (attribute)|
57171008 |Hematopoietic system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (1676178023) - 47526003 -> 301317008 (116680003) View

116680003 |Is a (attribute)|
301317008 |Hereditary nonspherocytic hemolytic anemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (225442028) - 47526003 -> 234401000 (116680003) View

116680003 |Is a (attribute)|
234401000 |Erythrocyte enzyme deficiency (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (225444027) - 47526003 -> 111577008 (116680003) View

116680003 |Is a (attribute)|
111577008 |Anemia due to enzyme deficiency (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (225445026) - 47526003 -> 86095007 (116680003) View

116680003 |Is a (attribute)|
86095007 |Inborn error of metabolism (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

86095007 View

86095007
Inborn error of metabolism (disorder)
Inborn error of metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

111577008 View

111577008
Anemia due to enzyme deficiency (disorder)
Anemia due to enzyme deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

234401000 View

234401000
Erythrocyte enzyme deficiency (disorder)
Erythrocyte enzyme deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

301317008 View

301317008
Hereditary nonspherocytic hemolytic anemia (disorder)
Hnsha
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True
esc