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Terminology chevron_right Concepts chevron_right 124221007

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124221007
The component that hold information about this concept.
Deficiency of steroid 21-monooxygenase (disorder)
21-hydroxylase 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

Deficiency of steroid 21-monooxygenase (disorder)

SCTID: 124221007, Primitive, Active


124221007|Deficiency of steroid 21-monooxygenase (disorder)|
  • en 21-hydroxylase deficiency
  • en Deficiency of steroid 21-hydroxylase
  • en Deficiency of steroid 21-monooxygenase
  • en Deficiency of steroid 21-monooxygenase (disorder)
  • en Cah - 21-hydroxylase deficiency

124221007 |Deficiency of steroid 21-monooxygenase (disorder)|

<<< 129456006 |Specific enzyme deficiency (disorder)| +
    129636003 |Disorder of adrenal cortex (disorder)| +
    28710006 |Disorder of steroid metabolism (disorder)| :
        { 363698007 |Finding site (attribute)| = 68594002 |Adrenal cortex structure (body structure)| }
Active

3332438012 - 21-hydroxylase deficiency (en) View

3332438012
en
Synonym (core metadata concept)
21-hydroxylase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

203798012 - Deficiency of steroid 21-hydroxylase (en) View

203798012
en
Synonym (core metadata concept)
Deficiency of steroid 21-hydroxylase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

203799016 - Deficiency of steroid 21-monooxygenase (en) View

203799016
en
Synonym (core metadata concept)
Deficiency of steroid 21-monooxygenase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

727726019 - Deficiency of steroid 21-monooxygenase (disorder) (en) View

727726019
en
Fully specified name (core metadata concept)
Deficiency of steroid 21-monooxygenase (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

473063012 - CAH - 21-hydroxylase deficiency (en) View

473063012
en
Synonym (core metadata concept)
CAH - 21-hydroxylase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (690184028) - 124221007 -> 68594002 (363698007) View

363698007 |Finding site (attribute)|
68594002 |Adrenal cortex structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (157144024) - 124221007 -> 237751000 (116680003) View

116680003 |Is a (attribute)|
237751000 |Congenital adrenal hyperplasia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2590197022) - 124221007 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2687615028) - 124221007 -> 129636003 (116680003) View

116680003 |Is a (attribute)|
129636003 |Disorder of adrenal cortex (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2687616027) - 124221007 -> 28710006 (116680003) View

116680003 |Is a (attribute)|
28710006 |Disorder of steroid metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (690183023) - 124221007 -> 127944005 (363698007) View

363698007 |Finding site (attribute)|
127944005 |Entire endocrine gonad (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (157143029) - 124221007 -> 129456006 (116680003) View

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

129636003 View

129636003
Disorder of adrenal cortex (disorder)
Disease of adrenal cortex
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

28710006 View

28710006
Disorder of steroid metabolism (disorder)
Disorder of steroid 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

15991002 View

15991002
Severe steroid 21-hydroxylase deficiency (disorder)
Severe steroid 21-hydroxylase deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

45235005 View

45235005
Mild steroid 21-hydroxylase deficiency (disorder)
Mild steroid 21-hydroxylase deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

60045007 View

60045007
Moderate steroid 21-hydroxylase deficiency (disorder)
Moderate steroid 21-hydroxylase deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (74974883-3950-54bc-9688-6d19ff548f2f) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E25.0
TRUE
ALWAYS E25.0
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