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Terminology chevron_right Concepts chevron_right 68724006

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Component

68724006

The component that hold information about this concept.

Fully Specified Name (FSN)

Tetrahydrobiopterin synthesis defect (disorder)

Shortest Term

Hyperphenylalaninemia, type v

Definition Status

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

Summary

Tetrahydrobiopterin synthesis defect (disorder)

SCTID: 68724006, Primitive, Active

68724006|Tetrahydrobiopterin synthesis defect (disorder)|

en Deficiency of tetrahydrobiopterin
en Hyperphenylalanineaemia due to bh4 (tetrahydrobiopterin) deficiency
en Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency
en Hyperphenylalaninemia due to bh4 (tetrahydrobiopterin) deficiency
en Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
en Tetrahydrobiopterin synthesis defect
en Tetrahydrobiopterin synthesis defect (disorder)

Expression

68724006 |Tetrahydrobiopterin synthesis defect (disorder)|
 <<< 237913008 |Disorder of tetrahydrobiopterin metabolism (disorder)| + 
68528007 |Hyperphenylalaninemia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4570797018 - Deficiency of tetrahydrobiopterin (en) View
4570797018	en	Synonym (core metadata concept)	Deficiency of tetrahydrobiopterin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501082011 - Hyperphenylalaninaemia, type V (en) View
501082011	en	Synonym (core metadata concept)	Hyperphenylalaninaemia, type V	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
4570794013 - Hyperphenylalanineaemia due to BH4 (tetrahydrobiopterin) deficiency (en) View
4570794013	en	Synonym (core metadata concept)	Hyperphenylalanineaemia due to BH4 (tetrahydrobiopterin) deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
4570795014 - Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency (en) View
4570795014	en	Synonym (core metadata concept)	Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4570796010 - Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency (en) View
4570796010	en	Synonym (core metadata concept)	Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
4570798011 - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency (en) View
4570798011	en	Synonym (core metadata concept)	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
114151012 - Hyperphenylalaninemia, type V (en) View
114151012	en	Synonym (core metadata concept)	Hyperphenylalaninemia, type V	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
114149013 - Tetrahydrobiopterin synthesis defect (en) View
114149013	en	Synonym (core metadata concept)	Tetrahydrobiopterin synthesis defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
808591013 - Tetrahydrobiopterin synthesis defect (disorder) (en) View
808591013	en	Fully specified name (core metadata concept)	Tetrahydrobiopterin synthesis defect (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
114150013 - Tetrahydrobiopterin synthesis defect, NOS (en) View
114150013	en	Synonym (core metadata concept)	Tetrahydrobiopterin synthesis defect, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13797102027) - 68724006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (845556028) - 68724006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (845555029) - 68724006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (259902021) - 68724006 -> 237913008 (116680003) View
116680003 \|Is a (attribute)\|	237913008 \|Disorder of tetrahydrobiopterin metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (259903027) - 68724006 -> 68528007 (116680003) View
116680003 \|Is a (attribute)\|	68528007 \|Hyperphenylalaninemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
68528007 View
68528007	Hyperphenylalaninemia (disorder)	Hyperphenylalaninemia	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
237913008 View
237913008	Disorder of tetrahydrobiopterin metabolism (disorder)	Disorder of tetrahydrobiopterin metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
23447005 View
23447005	Guanosine triphosphate cyclohydrolase i deficiency (disorder)	Gtp cyclohydrolase i deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
58256000 View
58256000	Dihydropteridine reductase deficiency (disorder)	Atypical pku	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237914002 View
237914002	6-pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)	6-pyruvoyl-tetrahydropterin synthase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
276261007 View
276261007	Pterin-4-carbinolamine dehydratase deficiency (disorder)	Pterin-4-carbinolamine dehydratase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (fe7a9bc5-5f3d-5c15-be80-35ded52fad36) 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)\|

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