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Terminology chevron_right Concepts chevron_right 24308003

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24308003
The component that hold information about this concept.
Cystathionine beta-synthase deficiency (disorder)
Cbs 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

Cystathionine beta-synthase deficiency (disorder)

SCTID: 24308003, Primitive, Active


24308003|Cystathionine beta-synthase deficiency (disorder)|
  • en Cystathionine beta-synthase deficiency
  • en Cystathionine beta-synthase deficiency (disorder)
  • en Deficiency of beta-thionase
  • en Deficiency of methylcysteine synthase
  • en Deficiency of serine sulfhydrase
  • en Deficiency of serine sulphydrase
  • en Cbs deficiency

24308003 |Cystathionine beta-synthase deficiency (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    129456006 |Specific enzyme deficiency (disorder)| +
    28882002 |Disorder of sulfur-bearing amino acid metabolism (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

40795013 - Cystathionine beta-synthase deficiency (en) View

40795013
en
Synonym (core metadata concept)
Cystathionine beta-synthase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

753930012 - Cystathionine beta-synthase deficiency (disorder) (en) View

753930012
en
Fully specified name (core metadata concept)
Cystathionine beta-synthase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

2475929016 - Deficiency of beta-thionase (en) View

2475929016
en
Synonym (core metadata concept)
Deficiency of beta-thionase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2475928012 - Deficiency of methylcysteine synthase (en) View

2475928012
en
Synonym (core metadata concept)
Deficiency of methylcysteine synthase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2475191011 - Deficiency of serine sulfhydrase (en) View

2475191011
en
Synonym (core metadata concept)
Deficiency of serine sulfhydrase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2474989014 - Deficiency of serine sulphydrase (en) View

2474989014
en
Synonym (core metadata concept)
Deficiency of serine sulphydrase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

40796014 - CBS deficiency (en) View

40796014
en
Synonym (core metadata concept)
CBS deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (733278024) - 24308003 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2689793022) - 24308003 -> 86095007 (116680003) View

116680003 |Is a (attribute)|
86095007 |Inborn error of metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (187650023) - 24308003 -> 11282001 (116680003) View

116680003 |Is a (attribute)|
11282001 |Homocystinuria (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (187652026) - 24308003 -> 78548001 (116680003) View

116680003 |Is a (attribute)|
78548001 |Enzymopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (733277025) - 24308003 -> 91689009 (363698007) View

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

Relationship (2545048025) - 24308003 -> 129456006 (116680003) View

116680003 |Is a (attribute)|
129456006 |Specific enzyme deficiency (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2545049022) - 24308003 -> 28882002 (116680003) View

116680003 |Is a (attribute)|
28882002 |Disorder of sulfur-bearing amino acid metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (187651022) - 24308003 -> 85995004 (116680003) View

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

28882002 View

28882002
Disorder of sulfur-bearing amino acid metabolism (disorder)
Sulfuraminoacidemia
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

86095007 View

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

129456006 View

129456006
Specific enzyme deficiency (disorder)
Specific enzyme deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (3e02a0c2-52f4-5b3b-ba80-e1011ac9b678) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.1
TRUE
ALWAYS E72.1
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