Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 23447005

Production
add
23447005
The component that hold information about this concept.
Guanosine triphosphate cyclohydrolase i deficiency (disorder)
Gtp cyclohydrolase i 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

Guanosine triphosphate cyclohydrolase i deficiency (disorder)

SCTID: 23447005, Primitive, Active


23447005|Guanosine triphosphate cyclohydrolase i deficiency (disorder)|
  • en Guanosine-5-triphosphate cyclohydrolase deficiency
  • en Hyperphenylalaninaemia with neopterin deficiency
  • en Hyperphenylalaninemia with neopterin deficiency
  • en Guanosine triphosphate cyclohydrolase i deficiency
  • en Guanosine triphosphate cyclohydrolase i deficiency (disorder)
  • en Guanosine triphosphate (gtp) cyclohydrolase i deficiency
  • en Gtp - guanosine-5-triphosphate cyclohydrolase deficiency
  • en Gtp cyclohydrolase i deficiency

23447005 |Guanosine triphosphate cyclohydrolase i deficiency (disorder)|

<<< 68724006 |Tetrahydrobiopterin synthesis defect (disorder)|
Active

1223098015 - Guanosine-5-triphosphate cyclohydrolase deficiency (en) View

1223098015
en
Synonym (core metadata concept)
Guanosine-5-triphosphate cyclohydrolase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

481622017 - Hyperphenylalaninaemia with neopterin deficiency (en) View

481622017
en
Synonym (core metadata concept)
Hyperphenylalaninaemia with neopterin deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

39369018 - Hyperphenylalaninemia with neopterin deficiency (en) View

39369018
en
Synonym (core metadata concept)
Hyperphenylalaninemia with neopterin deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2914750018 - Guanosine triphosphate cyclohydrolase I deficiency (en) View

2914750018
en
Synonym (core metadata concept)
Guanosine triphosphate cyclohydrolase I deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

2914468019 - Guanosine triphosphate cyclohydrolase I deficiency (disorder) (en) View

2914468019
en
Fully specified name (core metadata concept)
Guanosine triphosphate cyclohydrolase I deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

2609120013 - Guanosine triphosphate (GTP) cyclohydrolase I deficiency (disorder) (en) View

2609120013
en
Fully specified name (core metadata concept)
Guanosine triphosphate (GTP) cyclohydrolase I deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

752968016 - GTP cyclohydrolase I deficiency (disorder) (en) View

752968016
en
Fully specified name (core metadata concept)
GTP cyclohydrolase I deficiency (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
False

2619564015 - Guanosine triphosphate (GTP) cyclohydrolase I deficiency (en) View

2619564015
en
Synonym (core metadata concept)
Guanosine triphosphate (GTP) cyclohydrolase I deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

1223099011 - GTP - Guanosine-5-triphosphate cyclohydrolase deficiency (en) View

1223099011
en
Synonym (core metadata concept)
GTP - Guanosine-5-triphosphate cyclohydrolase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

39368014 - GTP cyclohydrolase I deficiency (en) View

39368014
en
Synonym (core metadata concept)
GTP cyclohydrolase I deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

68724006 View

68724006
Tetrahydrobiopterin synthesis defect (disorder)
Hyperphenylalaninemia, type v
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (8c410952-8432-5ac5-b27a-6ed99407a77a) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E70.1
TRUE
ALWAYS E70.1
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